ALPL p.Asp203Val
c.608_609delinsTT · rs2545304313 · VCV2850248
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 11 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.83 | unconstrained · MANE · 24 kb · p 6.1e-06 · 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
- ALPL
- Protein
- p.Asp203Val
- Coding
- c.608_609delinsTT
- MANE Select
- NM_000478
- dbSNP
- rs2545304313
- Type
- Indel
- Location
- chr1:21564176 (GRCh38)
- Gene constraint
- LOEUF 0.987 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.74 · 5 PDB
- Residue 203
- an α-helix
Similar variants
- ALPL p.Asp203Glu Likely pathogenic ★ same residue
- ALPL p.Asp189_Met192delinsArg Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Glu342Leu Likely pathogenic ★★ same type
- ALPL p.Leu8fs Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Thr134His Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Val217delinsAlaLys Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Ala500fs Likely pathogenic ★ same type
- ALPL p.Arg168fs Likely pathogenic ★ same type
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/alpl-p-asp203val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown