R97G (p.Arg97Gly) variant of COL6A3 (Collagen alpha-3(VI) chain)
R97G (p.Arg97Gly) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R97G (p.Arg97Gly) variant details
- p.Arg97Gly
- ESP rs144651558
- ExAC rs144651558
- TOPMed rs144651558
- gnomAD rs144651558
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.16
- MetaLR 0.29
- MetaSVM -0.89
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available