H33D (p.His33Asp) variant of KCNMA1 (Q12791)
H33D (p.His33Asp) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
H33D (p.His33Asp) variant details
- p.His33Asp
- gnomAD rs2093891400
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.27
- CADD 24.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)