R47I (p.Arg47Ile) variant of MEFV (Pyrin)
R47I (p.Arg47Ile) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R47I (p.Arg47Ile) variant details
- p.Arg47Ile
- ExAC rs776473244
- gnomAD rs776473244
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.07
- CADD 7.77
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available