A2V (p.Ala2Val) variant of NF1 (Neurofibromin)
A2V (p.Ala2Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1555594473
- ClinGen CA398979169
- ClinVar RCV000564452
- ClinVar RCV006612389
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- AlphaMissense 0.93
- MetaLR 0.08
- MetaSVM -1.12
- CADD 25.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)