T53I (p.Thr53Ile) variant of NCF1 (Neutrophil cytosol factor 1)
T53I (p.Thr53Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- TOPMed rs1235799901
- gnomAD rs1235799901
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.99
- CADD 6.53
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0584