R42R (p.Arg42Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
R42R (p.Arg42Arg) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R42R (p.Arg42Arg) variant details
- p.Arg42Arg
- gnomAD 2-188984804-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available