V40A (p.Val40Ala) variant of NCF4 (Neutrophil cytosol factor 4)
V40A (p.Val40Ala) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD 22-36864920-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.71
- CADD 26.60
- PolyPhen-2 0.64
- SIFT 0.10
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available