T25K (p.Thr25Lys) variant of NF1 (Neurofibromin)
T25K (p.Thr25Lys) in NF1 (Neurofibromin) is a missense change. 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.
T25K (p.Thr25Lys) variant details
- p.Thr25Lys
- gnomAD 17-31155996-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available
- Literature evidence available