Y62C (p.Tyr62Cys) variant of PTPN11 (Q06124)
Y62C (p.Tyr62Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- rs1013419211
- ClinGen CA243707919
- ClinVar RCV002414886
- ClinVar RCV003539452
- Uncertain significance
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.77
- MetaLR 0.60
- MetaSVM 0.20
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance (in NS1)
- UniProt: Uncertain significance (in NS1)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available