G72R (p.Gly72Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
G72R (p.Gly72Arg) 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 0.67 / 1. The record also includes population frequency data and structural context.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- NCI-TCGA Cosmic COSV5509
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.75
- MetaLR 0.72
- MetaSVM 0.54
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available