Y61S (p.Tyr61Ser) variant of MEFV (Pyrin)
Y61S (p.Tyr61Ser) 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 0.46 / 1. The record also includes population frequency data and structural context.
Y61S (p.Tyr61Ser) variant details
- p.Tyr61Ser
- ExAC rs755200391
- TOPMed rs755200391
- gnomAD rs755200391
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available