G955R (p.Gly955Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G955R (p.Gly955Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; Alport syndrome 3b, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G955R (p.Gly955Arg) variant details
- p.Gly955Arg
- rs771818723
- ClinGen CA2147041
- ClinVar RCV005623107
- ExAC rs771818723
- Pathogenic/Likely pathogenic
- Alport syndrome; Alport syndrome 3b, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Alport syndrome 3b, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)