L29R (p.Leu29Arg) variant of NCF1 (Neutrophil cytosol factor 1)
L29R (p.Leu29Arg) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- gnomAD 7-74777280-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- MetaLR 0.35
- MetaSVM -0.57
- CADD 23.30
- PolyPhen-2 0.31
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.897
- Literature evidence available