A31V (p.Ala31Val) variant of PTPN11 (Q06124)
A31V (p.Ala31Val) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- Ensembl rs2037994433
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available