M1V (p.Met1Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
M1V (p.Met1Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1396602090
- ClinGen CA350845866
- ClinVar RCV002597219
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.47
- MetaSVM -0.48
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available