V7G (p.Val7Gly) variant of NF1 (Neurofibromin)
V7G (p.Val7Gly) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- gnomAD rs1472128030
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available