G417V (p.Gly417Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G417V (p.Gly417Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloperipheral dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G417V (p.Gly417Val) variant details
- p.Gly417Val
- rs2136577094
- ClinGen CA384554183
- ClinVar RCV001806419
- Ensembl rs2136577094
- Likely pathogenic
- Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Spondyloperipheral dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)