L20L (p.Leu20Leu) variant of PTPN11 (Q06124)
L20L (p.Leu20Leu) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 12-112446319-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 12.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available