V14A (p.Val14Ala) variant of NF1 (Neurofibromin)
V14A (p.Val14Ala) 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.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- rs2143145332
- ClinGen CA398979332
- cosmic curated COSV10064
- ClinVar RCV003032903
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.21
- AlphaMissense 0.80
- MetaLR 0.02
- MetaSVM -1.03
- CADD 24.30
- PolyPhen-2 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)