T30P (p.Thr30Pro) variant of NF1 (Neurofibromin)
T30P (p.Thr30Pro) 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.
T30P (p.Thr30Pro) variant details
- p.Thr30Pro
- rs1555604881
- ClinGen CA398988172
- ClinVar RCV000550449
- ClinVar RCV001764536
- Uncertain significance
- 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
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)