Q20L (p.Gln20Leu) variant of NF1 (Neurofibromin)
Q20L (p.Gln20Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q20L (p.Gln20Leu) variant details
- p.Gln20Leu
- Ensembl rs1598173901
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.11
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.90
- PolyPhen-2 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available