A12T (p.Ala12Thr) variant of NF1 (Neurofibromin)
A12T (p.Ala12Thr) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs2544511365
- ClinGen CA398979303
- ClinVar RCV003047619
- ClinVar RCV005567367
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.05
- CADD 22.00
- PolyPhen-2 0.07
- 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)