Is COL4A4 p.Pro718= (c.2154A>G) pathogenic?

COL4A4 p.Pro718= (c.2154A>G) is classified Likely benign in COL4A4 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-06). No allele count reported in gnomAD v4.1 (AN 1,336,578).

How common is COL4A4 p.Pro718= (c.2154A>G) in the general population?

COL4A4 p.Pro718= (c.2154A>G) is no allele count reported in gnomAD v4.1 (AN 1,336,578) (gnomAD).

COL4A4 p.Pro718=

c.2154A>G · rs2150287159 · VCV1562221

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,336,578)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.12	GERP -0.84, phastCons 0.21
Overall
CADD	6.836	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,336,578). 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: COL4A4
Protein: p.Pro718=
Coding: c.2154A>G
MANE Select: NM_000092
dbSNP: rs2150287159
Type: single nucleotide variant
Location: chr2:227060146 (GRCh38)
Gene constraint: LOEUF 0.607 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 49.03 · 2 PDB
Residue 718: the 'triple-helical region' region; the 'disordered' region

Full COL4A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

COL4A4 p.Pro718Leu Uncertain significance ★ ⚠ same residue
COL4A4 p.Pro718Ser Uncertain significance ★ ⚠ same residue
COL4A4 p.Pro718Thr Uncertain significance ⚠ same residue
COL4A4 p.Pro718dup Uncertain significance same residue
COL4A4 c.1030-2A>C Likely pathogenic ★★ same type
COL4A4 c.1099+1G>A Pathogenic ★★ same type
COL4A4 c.1099+1G>T Pathogenic/Likely pathogenic ★★ same type
COL4A4 c.1369+1G>A Pathogenic/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/col4a4-p-pro718 (accessed [today's date]).

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