I71N (p.Ile71Asn) variant of KCNMA1 (Q12791)
I71N (p.Ile71Asn) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
I71N (p.Ile71Asn) variant details
- p.Ile71Asn
- TOPMed rs1404837982
- gnomAD rs1404837982
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.22
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)