G66C (p.Gly66Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G66C (p.Gly66Cys) in COL1A2 (Collagen alpha-2(I) 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 0.90 / 1. The record also includes population frequency data and structural context.
G66C (p.Gly66Cys) variant details
- p.Gly66Cys
- NCI-TCGA Cosmic COSV5196
- cosmic curated COSV51967
- NCI-TCGA Cosmic COSV9979
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available