V10G (p.Val10Gly) variant of NF1 (Neurofibromin)
V10G (p.Val10Gly) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V10G (p.Val10Gly) variant details
- p.Val10Gly
- rs2143145014
- ClinGen CA398979281
- ClinVar RCV003323125
- Ensembl rs2143145014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- MetaLR 0.07
- MetaSVM -1.13
- CADD 25.50
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available