H37Y (p.His37Tyr) variant of MEFV (Pyrin)
H37Y (p.His37Tyr) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H37Y (p.His37Tyr) variant details
- p.His37Tyr
- TOPMed rs1383626535
- gnomAD rs1383626535
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- CADD 22.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available