Y60* (p.Tyr60Ter) variant of MEFV (Pyrin)
Y60* (p.Tyr60Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- ESP rs371505752
- ExAC rs371505752
- TOPMed rs371505752
- gnomAD rs371505752
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 35.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available