D66G (p.Asp66Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
D66G (p.Asp66Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
D66G (p.Asp66Gly) variant details
- p.Asp66Gly
- NCI-TCGA Cosmic COSV6152
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.27
- CADD 24.10
- PolyPhen-2 0.12
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available