P22T (p.Pro22Thr) variant of NF1 (Neurofibromin)
P22T (p.Pro22Thr) 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 0.51 / 1. The record also includes population frequency data and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- Ensembl rs1597625794
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.44
- MetaLR 0.11
- MetaSVM -0.96
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available