L38M (p.Leu38Met) variant of RNF207 (RING finger protein 207)
L38M (p.Leu38Met) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L38M (p.Leu38Met) variant details
- p.Leu38Met
- gnomAD 1-6206647-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available