A48S (p.Ala48Ser) variant of MEFV (Pyrin)
A48S (p.Ala48Ser) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- gnomAD rs1166849597
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available