K23N (p.Lys23Asn) variant of MEFV (Pyrin)
K23N (p.Lys23Asn) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- ExAC rs751006121
- gnomAD rs751006121
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available