G117R (p.Gly117Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G117R (p.Gly117Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10047
- ExAC rs755974820
- gnomAD rs755974820
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available