M1V (p.Met1Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
M1V (p.Met1Val) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs104886050
- ClinGen CA258193
- ClinVar RCV000021092
- ClinVar RCV001381883
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- MetaLR 0.65
- MetaSVM 0.53
- PolyPhen-2 0.32
- SIFT 0.02
- MutPred 0.92
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)