K35E (p.Lys35Glu) variant of PTPN11 (Q06124)
K35E (p.Lys35Glu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- rs934388335
- ClinGen CA243707499
- ClinVar RCV001204608
- gnomAD rs934388335
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.33
- MetaSVM -0.55
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available