T25I (p.Thr25Ile) variant of NF1 (Neurofibromin)
T25I (p.Thr25Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- rs1555604874
- ClinGen CA398988104
- ClinVar RCV000573262
- ClinVar RCV001067528
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.09
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.03
- CADD 18.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)