A64V (p.Ala64Val) variant of NCF1 (Neutrophil cytosol factor 1)
A64V (p.Ala64Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs1375017077
- gnomAD rs1375017077
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -1.05
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0245