A83D (p.Ala83Asp) variant of MEFV (Pyrin)
A83D (p.Ala83Asp) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A83D (p.Ala83Asp) variant details
- p.Ala83Asp
- TOPMed rs1201136546
- gnomAD rs1201136546
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.36
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available