G207V (p.Gly207Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G207V (p.Gly207Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G207V (p.Gly207Val) variant details
- p.Gly207Val
- rs2136619125
- ClinGen CA384523945
- ClinVar RCV001787268
- Ensembl rs2136619125
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in SEDSTN)
- UniProt: Likely pathogenic (in SEDSTN)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)