G1205V (p.Gly1205Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1205V (p.Gly1205Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chronic kidney disease; Elevated mean arterial pressure; Microscopic hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G1205V (p.Gly1205Val) variant details
- p.Gly1205Val
- rs1556446493
- ClinGen CA413848363
- ClinVar RCV000626981
- Ensembl rs1556446493
- Pathogenic
- Chronic kidney disease; Elevated mean arterial pressure; Microscopic hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Chronic kidney disease; Elevated mean arterial pressure; Microsc)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available