F24V (p.Phe24Val) variant of MEFV (Pyrin)
F24V (p.Phe24Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
F24V (p.Phe24Val) variant details
- p.Phe24Val
- TOPMed rs1357615824
- gnomAD rs1357615824
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.80
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available