I5L (p.Ile5Leu) variant of RNF207 (RING finger protein 207)
I5L (p.Ile5Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I5L (p.Ile5Leu) variant details
- p.Ile5Leu
- gnomAD 1-6206548-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available