K35I (p.Lys35Ile) variant of PTPN11 (Q06124)
K35I (p.Lys35Ile) 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 0.55 / 1. The record also includes population frequency data and structural context.
K35I (p.Lys35Ile) variant details
- p.Lys35Ile
- rs2037994651
- ClinGen CA386776308
- ClinVar RCV003540187
- gnomAD rs2037994651
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.60
- MetaLR 0.57
- MetaSVM -0.07
- CADD 23.50
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available