A3T (p.Ala3Thr) variant of NF1 (Neurofibromin)
A3T (p.Ala3Thr) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1598173770
- ClinGen CA398979175
- ClinVar RCV000815492
- ClinVar RCV002422823
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.00
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)