M57T (p.Met57Thr) variant of NCF1 (Neutrophil cytosol factor 1)
M57T (p.Met57Thr) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M57T (p.Met57Thr) variant details
- p.Met57Thr
- Ensembl rs1796532372
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.95
- CADD 25.80
- PolyPhen-2 0.68
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0289