R34L (p.Arg34Leu) variant of RNF207 (RING finger protein 207)
R34L (p.Arg34Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- gnomAD 1-6206636-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available