K35Q (p.Lys35Gln) variant of PTPN11 (Q06124)
K35Q (p.Lys35Gln) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K35Q (p.Lys35Gln) variant details
- p.Lys35Gln
- rs934388335
- ClinGen CA386776304
- ClinVar RCV000681118
- ClinVar RCV004026167
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.46
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available