G43R (p.Gly43Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G43R (p.Gly43Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs2469447948
- ClinGen CA2825001094
- ClinVar RCV004526563
- Likely benign
- not specified; not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely benign (not specified)
- EBI: Likely benign (in dbSNP:rs13424243)
- UniProt: Likely benign (in dbSNP:rs13424243)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. (PMID 11134255)