V14M (p.Val14Met) variant of PTPN11 (Q06124)
V14M (p.Val14Met) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The record also includes structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- cosmic curated COSV10465
- Ensembl rs2135856353
- Uncertain significance
- RASopathy; not provided
- Missense
- ClinVar: Uncertain significance (RASopathy; not provided)
- UniProt: Uncertain significance
- Structural context available