T30A (p.Thr30Ala) variant of NF1 (Neurofibromin)
T30A (p.Thr30Ala) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- rs1555604881
- ClinGen CA398988174
- ClinVar RCV003228448
- ClinVar RCV003598165
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.15
- PolyPhen-2 1.00
- SIFT 0.12
- EVE 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)