H37L (p.His37Leu) variant of MEFV (Pyrin)
H37L (p.His37Leu) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H37L (p.His37Leu) variant details
- p.His37Leu
- gnomAD rs1214854554
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- CADD 22.50
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available