K65N (p.Lys65Asn) variant of KCNMA1 (Q12791)
K65N (p.Lys65Asn) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- gnomAD rs1301827200
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)