G1008V (p.Gly1008Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G1008V (p.Gly1008Val) 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; Achondrogenesis type II; Short ribs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1008V (p.Gly1008Val) variant details
- p.Gly1008Val
- rs765795867
- ClinGen CA16043471
- ClinVar RCV000415214
- ClinVar RCV001196261
- Pathogenic
- not provided; Achondrogenesis type II; Short ribs
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided; Achondrogenesis type II; Short ribs)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)