A2D (p.Ala2Asp) variant of NF1 (Neurofibromin)
A2D (p.Ala2Asp) 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 0.28 / 1. The record also includes published literature and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs1555594473
- ClinGen CA398979165
- ClinVar RCV002948460
- ClinVar RCV003225245
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.93
- MetaLR 0.08
- MetaSVM -1.12
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)