M1T (p.Met1Thr) variant of KCNQ5 (Q9NR82)
M1T (p.Met1Thr) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2481564750
- ClinGen CA364823946
- ClinVar RCV003688778
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available