Y19D (p.Tyr19Asp) variant of MEFV (Pyrin)
Y19D (p.Tyr19Asp) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y19D (p.Tyr19Asp) variant details
- p.Tyr19Asp
- TOPMed rs879739051
- gnomAD rs879739051
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.15
- CADD 18.20
- PolyPhen-2 0.11
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available