T53T (p.Thr53Thr) variant of NCF1 (Neutrophil cytosol factor 1)
T53T (p.Thr53Thr) in NCF1 (Neutrophil cytosol factor 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T53T (p.Thr53Thr) variant details
- p.Thr53Thr
- gnomAD 7-74779087-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 8.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0584
- Literature evidence available