G30R (p.Gly30Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G30R (p.Gly30Arg) in COL3A1 (Collagen alpha-1(III) 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 0.38 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs530070719
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58584
- 1000Genomes rs530070719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.13
- MetaLR 0.21
- MetaSVM -0.87
- PolyPhen-2 0.23
- SIFT 0.50
- MutPred 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available