L98S (p.Leu98Ser) variant of NCF2 (Neutrophil cytosol factor 2)
L98S (p.Leu98Ser) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L98S (p.Leu98Ser) variant details
- p.Leu98Ser
- ExAC rs754041676
- TOPMed rs754041676
- gnomAD rs754041676
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.72
- MetaLR 0.53
- MetaSVM -0.17
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available