K52N (p.Lys52Asn) variant of MEFV (Pyrin)
K52N (p.Lys52Asn) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- gnomAD rs1306619372
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available