L19L (p.Leu19Leu) variant of PTPN11 (Q06124)
L19L (p.Leu19Leu) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs764238610
- gnomAD 12-112446318-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.54
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available