V14D (p.Val14Asp) variant of NF1 (Neurofibromin)
V14D (p.Val14Asp) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- rs2143145332
- ClinGen CA398979334
- ClinVar RCV003599831
- ClinVar RCV004786997
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.80
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.58
- SIFT 0.00
- EVE 0.35
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- 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)