L37F (p.Leu37Phe) variant of RYR2 (Ryanodine receptor 2)
L37F (p.Leu37Phe) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- gnomAD 1-237270559-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.86
- MetaLR 0.89
- MetaSVM 0.87
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available