A12V (p.Ala12Val) variant of NF1 (Neurofibromin)
A12V (p.Ala12Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1911554964
- ClinGen CA398979309
- ClinVar RCV001203831
- ClinVar RCV002451424
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.15
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)