V13A (p.Val13Ala) variant of NF1 (Neurofibromin)
V13A (p.Val13Ala) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs1911556061
- ClinGen CA398979319
- ClinVar RCV001036626
- ClinVar RCV002298852
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.22
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.03
- 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)