G1164D (p.Gly1164Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1164D (p.Gly1164Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1164D (p.Gly1164Asp) variant details
- p.Gly1164Asp
- rs2469863799
- ClinGen CA350858929
- ClinVar RCV003716726
- ClinVar RCV004690453
- Conflicting interpretations
- not provided; Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.99
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal dominant Alport syndrome; Alport syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)