S15I (p.Ser15Ile) variant of NF1 (Neurofibromin)
S15I (p.Ser15Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S15I (p.Ser15Ile) variant details
- p.Ser15Ile
- Ensembl rs1598173852
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.96
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available