V14F (p.Val14Phe) variant of NF1 (Neurofibromin)
V14F (p.Val14Phe) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V14F (p.Val14Phe) variant details
- p.Val14Phe
- rs2143145306
- ClinGen CA398979327
- ClinVar RCV002023004
- ClinVar RCV002324487
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- MetaLR 0.02
- MetaSVM -1.03
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.01
- 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)