G664V (p.Gly664Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G664V (p.Gly664Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G664V (p.Gly664Val) variant details
- p.Gly664Val
- rs72658154
- ClinGen CA368223021
- NCI-TCGA Cosmic COSV5196
- cosmic curated COSV51960
- Pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)