S15C (p.Ser15Cys) variant of NF1 (Neurofibromin)
S15C (p.Ser15Cys) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- gnomAD 17-31095352-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.60
- PolyPhen-2 0.32
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available