V7A (p.Val7Ala) variant of NF1 (Neurofibromin)
V7A (p.Val7Ala) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- gnomAD rs1472128030
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available