T25R (p.Thr25Arg) variant of NF1 (Neurofibromin)
T25R (p.Thr25Arg) 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 0.29 / 1. The record also includes published literature and structural context.
T25R (p.Thr25Arg) variant details
- p.Thr25Arg
- rs1555604874
- ClinGen CA398988102
- ClinVar RCV001049539
- Ensembl rs1555604874
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.18
- EVE 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)