L37V (p.Leu37Val) variant of RYR2 (Ryanodine receptor 2)
L37V (p.Leu37Val) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- gnomAD rs1426967066
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.66
- MetaLR 0.93
- MetaSVM 0.93
- CADD 18.40
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available