S212T (p.Ser212Thr) variant of MAP2K1 (Q02750)
S212T (p.Ser212Thr) in MAP2K1 (Q02750) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements and structural context.
S212T (p.Ser212Thr) variant details
- p.Ser212Thr
- rs1019098903
- ClinGen CA271671674
- ClinVar RCV003991601
- TOPMed rs1019098903
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -1.23