L23V (p.Leu23Val) variant of KCNMA1 (Q12791)
L23V (p.Leu23Val) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- TOPMed rs1207531380
- gnomAD rs1207531380
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 26.40
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)