T30I (p.Thr30Ile) variant of NF1 (Neurofibromin)
T30I (p.Thr30Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- Ensembl rs2143625564
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.33
- MetaLR 0.09
- MetaSVM -1.09
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available