G121R (p.Gly121Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
G121R (p.Gly121Arg) in COL6A3 (Collagen alpha-3(VI) 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 0.79 / 1. The record also includes population frequency data and structural context.
G121R (p.Gly121Arg) variant details
- p.Gly121Arg
- NCI-TCGA Cosmic COSV5511
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.87
- MetaLR 0.69
- MetaSVM 0.11
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available