K31Q (p.Lys31Gln) variant of NCF1 (Neutrophil cytosol factor 1)
K31Q (p.Lys31Gln) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K31Q (p.Lys31Gln) variant details
- p.Lys31Gln
- gnomAD 7-74777285-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- MetaLR 0.50
- MetaSVM -0.02
- CADD 27.00
- SIFT 0.02
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.139
- Literature evidence available