G63V (p.Gly63Val) variant of NCF1 (Neutrophil cytosol factor 1)
G63V (p.Gly63Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G63V (p.Gly63Val) variant details
- p.Gly63Val
- TOPMed rs1242540658
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.59
- MetaLR 0.59
- MetaSVM 0.32
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.041