P22L (p.Pro22Leu) variant of NF1 (Neurofibromin)
P22L (p.Pro22Leu) 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 0.39 / 1. The record also includes published literature and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs2065654347
- ClinGen CA398988047
- ClinVar RCV001230396
- ClinVar RCV003317460
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.92
- MetaLR 0.11
- MetaSVM -0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- 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)