L19V (p.Leu19Val) variant of PTPN11 (Q06124)
L19V (p.Leu19Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- rs2037993841
- ClinGen CA386776204
- ClinVar RCV003655713
- gnomAD rs2037993841
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.60
- MetaLR 0.85
- MetaSVM 0.74
- CADD 22.80
- SIFT 0.04
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available