E15K (p.Glu15Lys) variant of MEFV (Pyrin)
E15K (p.Glu15Lys) in MEFV (Pyrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- NCI-TCGA Cosmic COSV5482
- cosmic curated COSV54823
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available