K55R (p.Lys55Arg) variant of PTPN11 (Q06124)
K55R (p.Lys55Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- rs1261667540
- ClinGen CA386777492
- ClinVar RCV001912687
- TOPMed rs1261667540
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.55
- MetaLR 0.48
- MetaSVM -0.25
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available