A48G (p.Ala48Gly) variant of MEFV (Pyrin)
A48G (p.Ala48Gly) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- TOPMed rs1959117046
- gnomAD rs1959117046
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.31
- CADD 25.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available