W6C (p.Trp6Cys) variant of PTPN11 (Q06124)
W6C (p.Trp6Cys) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W6C (p.Trp6Cys) variant details
- p.Trp6Cys
- rs79203122
- ClinGen CA243707497
- cosmic curated COSV10069
- ClinVar RCV003655507
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available