Y61H (p.Tyr61His) variant of MEFV (Pyrin)
Y61H (p.Tyr61His) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y61H (p.Tyr61His) variant details
- p.Tyr61His
- ExAC rs768043268
- gnomAD rs768043268
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.38
- AlphaMissense 0.74
- MetaLR 0.31
- MetaSVM -0.63
- CADD 25.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available