S2L (p.Ser2Leu) variant of RNF207 (RING finger protein 207)
S2L (p.Ser2Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- gnomAD 1-6206540-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.16
- CADD 27.40
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available