A83V (p.Ala83Val) variant of MEFV (Pyrin)
A83V (p.Ala83Val) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- rs1201136546
- ClinGen CA394483505
- ClinVar RCV003443902
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.71
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available