P78S (p.Pro78Ser) variant of KCNMA1 (Q12791)
P78S (p.Pro78Ser) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- TOPMed rs1347749251
- gnomAD rs1347749251
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)