L21V (p.Leu21Val) variant of NF1 (Neurofibromin)
L21V (p.Leu21Val) 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 0.40 / 1. The record also includes published literature and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs779453629
- ClinGen CA398988010
- ClinVar RCV001306574
- ExAC rs779453629
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.85
- MetaLR 0.18
- MetaSVM -0.82
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.58
- 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)