H8N (p.His8Asn) variant of MEFV (Pyrin)
H8N (p.His8Asn) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H8N (p.His8Asn) variant details
- p.His8Asn
- gnomAD rs1959119465
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.19
- CADD 22.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available