A2S (p.Ala2Ser) variant of NF1 (Neurofibromin)
A2S (p.Ala2Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs2143144232
- ClinGen CA398979164
- ClinVar RCV001997805
- ClinVar RCV002344125
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.09
- AlphaMissense 0.32
- MetaLR 0.07
- MetaSVM -1.11
- CADD 22.70
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)