V7L (p.Val7Leu) variant of NF1 (Neurofibromin)
V7L (p.Val7Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- Ensembl rs1911552278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.08
- AlphaMissense 0.48
- MetaLR 0.05
- MetaSVM -1.12
- CADD 21.10
- PolyPhen-2 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available