I70M (p.Ile70Met) variant of KCNMA1 (Q12791)
I70M (p.Ile70Met) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
I70M (p.Ile70Met) variant details
- p.Ile70Met
- TOPMed rs1435246496
- gnomAD rs1435246496
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.13
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)