A31E (p.Ala31Glu) variant of KCNMA1 (Q12791)
A31E (p.Ala31Glu) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- TOPMed rs201551432
- gnomAD rs201551432
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.52
- CADD 24.20
- PolyPhen-2 0.16
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)