N78K (p.Asn78Lys) variant of MEFV (Pyrin)
N78K (p.Asn78Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
N78K (p.Asn78Lys) variant details
- p.Asn78Lys
- NCI-TCGA Cosmic COSV5482
- cosmic curated COSV54828
- ExAC rs755372668
- gnomAD rs755372668
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available