G68V (p.Gly68Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G68V (p.Gly68Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G68V (p.Gly68Val) variant details
- p.Gly68Val
- ExAC rs753903329
- TOPMed rs753903329
- gnomAD rs753903329
- Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available