G1066V (p.Gly1066Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1066V (p.Gly1066Val) 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 0.94 / 1. The record also includes population frequency data and structural context.
G1066V (p.Gly1066Val) variant details
- p.Gly1066Val
- ExAC rs771202106
- gnomAD rs771202106
- Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 31.00
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available