R39T (p.Arg39Thr) variant of MEFV (Pyrin)
R39T (p.Arg39Thr) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R39T (p.Arg39Thr) variant details
- p.Arg39Thr
- cosmic curated COSV54820
- ESP rs141288548
- ExAC rs141288548
- TOPMed rs141288548
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- CADD 22.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available