A62S (p.Ala62Ser) variant of NCF1 (Neutrophil cytosol factor 1)
A62S (p.Ala62Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A62S (p.Ala62Ser) variant details
- p.Ala62Ser
- gnomAD 7-74779112-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.89
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0747
- Literature evidence available