M1V (p.Met1Val) variant of COL2A1 (Collagen alpha-1(II) chain)
M1V (p.Met1Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Multiple epiphyseal dysplasia, Beighton type; Spondyloepiphyseal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2136652928
- ClinGen CA384528522
- ClinVar RCV001387776
- ClinVar RCV005005921
- Pathogenic
- not provided; Multiple epiphyseal dysplasia, Beighton type; Spondyloepiphyseal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.56
- MetaSVM 0.04
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (not provided; Multiple epiphyseal dysplasia, Beighton type; Spon)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)