T4N (p.Thr4Asn) variant of MEFV (Pyrin)
T4N (p.Thr4Asn) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T4N (p.Thr4Asn) variant details
- p.Thr4Asn
- TOPMed rs1386260680
- gnomAD rs1386260680
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- CADD 14.70
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available