M1V (p.Met1Val) variant of COL5A1 (Collagen alpha-1(V) chain)
M1V (p.Met1Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2132454722
- ClinGen CA375443752
- ClinVar RCV001895245
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- MetaLR 0.57
- MetaSVM -0.35
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)