V30G (p.Val30Gly) variant of NCF1 (Neutrophil cytosol factor 1)
V30G (p.Val30Gly) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- gnomAD 7-74777283-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.90
- MetaLR 0.66
- MetaSVM 0.54
- CADD 29.30
- SIFT 0.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.354
- Literature evidence available