A3G (p.Ala3Gly) variant of NF1 (Neurofibromin)
A3G (p.Ala3Gly) 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 0.31 / 1. The record also includes published literature and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs1911550821
- ClinGen CA398979179
- ClinVar RCV001340220
- Ensembl rs1911550821
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.58
- MetaLR 0.06
- MetaSVM -1.14
- PolyPhen-2 0.68
- SIFT 0.08
- MutPred 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)