K92R (p.Lys92Arg) variant of NCF2 (Neutrophil cytosol factor 2)
K92R (p.Lys92Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K92R (p.Lys92Arg) variant details
- p.Lys92Arg
- gnomAD rs1178973806
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.12
- MetaLR 0.26
- MetaSVM -0.88
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available