S13R (p.Ser13Arg) variant of RNF207 (RING finger protein 207)
S13R (p.Ser13Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- gnomAD 1-6206574-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0341
- REVEL 0.01
- CADD 0.57
- PolyPhen-2 0.03
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available