M53T (p.Met53Thr) variant of MEFV (Pyrin)
M53T (p.Met53Thr) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M53T (p.Met53Thr) variant details
- p.Met53Thr
- TOPMed rs1272013594
- gnomAD rs1272013594
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available