K55K (p.Lys55Lys) variant of PTPN11 (Q06124)
K55K (p.Lys55Lys) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K55K (p.Lys55Lys) variant details
- p.Lys55Lys
- gnomAD 12-112450345-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 10.90
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available