R88G (p.Arg88Gly) variant of MEFV (Pyrin)
R88G (p.Arg88Gly) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R88G (p.Arg88Gly) variant details
- p.Arg88Gly
- TOPMed rs943533562
- gnomAD rs943533562
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available