L1953V (p.Leu1953Val) variant of NF1 (Neurofibromin)
L1953V (p.Leu1953Val) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
L1953V (p.Leu1953Val) variant details
- p.Leu1953Val
- rs1555534394
- ClinGen CA399010653
- ClinVar RCV003598885
- Ensembl rs1555534394
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.57
- MetaLR 0.90
- MetaSVM 0.89
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic (in NF1)
- UniProt: Likely pathogenic (in NF1)
- 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)