E121A (p.Glu121Ala) variant of PTPN11 (Q06124)
E121A (p.Glu121Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility with azoospermia or oligozoospermia due to single gene mutation. The record also includes structural context.
E121A (p.Glu121Ala) variant details
- p.Glu121Ala
- rs2540419851
- ClinGen CA386780613
- ClinVar RCV003991596
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available