Is AMACR p.Val43Arg (c.127_128delinsAG) pathogenic?

AMACR p.Val43Arg (c.127128delinsAG) is classified Uncertain significance in AMACR (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-11-01). Absent from gnomAD; Associated with alpha-methylacyl-CoA racemase deficiency.

What condition is associated with AMACR p.Val43Arg (c.127_128delinsAG)?

AMACR p.Val43Arg (c.127_128delinsAG) is associated with alpha-methylacyl-CoA racemase deficiency (ClinVar).

How common is AMACR p.Val43Arg (c.127_128delinsAG) in the general population?

AMACR p.Val43Arg (c.127_128delinsAG) is absent from gnomAD (gnomAD).

AMACR p.Val43Arg

c.127_128delinsAG · rs1554006390 · VCV501410

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

alpha-methylacyl-CoA racemase deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1	GERP -2.6
Regional constraint	o/e 1.02	unconstrained · MANE · 19 kb · p 0.71 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AMACR
Protein: p.Val43Arg
Coding: c.127_128delinsAG
MANE Select: NM_014324
dbSNP: rs1554006390
Type: Indel
Location: chr5:34007892 (GRCh38)
Gene constraint: LOEUF 1.239 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.79

Full AMACR gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

alpha-methylacyl-CoA racemase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMACR p.Gly121Phe Uncertain significance ★ same condition
AMACR p.Val43Gly Uncertain significance ★ ⚠ same residue
AMACR p.Val43Met Uncertain significance ★ ⚠ same residue
AMACR p.Ser52Pro Pathogenic/Likely pathogenic ★★ same condition
AMACR c.*233T>C Uncertain significance ★★ same condition
AMACR p.Ala15Pro Uncertain significance ★★ ⚠ same condition
AMACR p.Ala189Glu Uncertain significance ★★ ⚠ same condition
AMACR p.Arg106Lys Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/amacr-p-val43arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown