S15R (p.Ser15Arg) variant of NF1 (Neurofibromin)
S15R (p.Ser15Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- Ensembl rs2143145432
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.02
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available