G985V (p.Gly985Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G985V (p.Gly985Val) 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; Alport syndrome; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G985V (p.Gly985Val) variant details
- p.Gly985Val
- rs121912827
- ClinGen CA127230
- ClinVar RCV000019042
- ClinVar RCV000485138
- Conflicting interpretations
- not provided; Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Alport syndrome; Autosomal dominant Alport syndrom)
- EBI: Pathogenic (in BFH2)
- UniProt: Pathogenic (in BFH2)
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available
- Cited in: Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. (PMID 11961012)
- Cited in: Alport Syndrome. (PMID 20301386)