G1228V (p.Gly1228Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1228V (p.Gly1228Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Inborn genetic diseases; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G1228V (p.Gly1228Val) variant details
- p.Gly1228Val
- rs1183958961
- ClinGen CA350860285
- ClinVar RCV001535999
- ClinVar RCV002568227
- Likely pathogenic
- not provided; Inborn genetic diseases; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Inborn genetic diseases; Autosomal dominant Alport)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)