R47K (p.Arg47Lys) variant of MEFV (Pyrin)
R47K (p.Arg47Lys) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R47K (p.Arg47Lys) variant details
- p.Arg47Lys
- ExAC rs776473244
- gnomAD rs776473244
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- CADD 0.95
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available