S15G (p.Ser15Gly) variant of NF1 (Neurofibromin)
S15G (p.Ser15Gly) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- gnomAD 17-31095352-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.06
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available