H120Y (p.His120Tyr) variant of KCNMA1 (Q12791)
H120Y (p.His120Tyr) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
H120Y (p.His120Tyr) variant details
- p.His120Tyr
- rs2552275283
- ClinGen CA377412209
- ClinVar RCV003131318
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance