A36S (p.Ala36Ser) variant of KCNQ3 (O43525)
A36S (p.Ala36Ser) in KCNQ3 (O43525) 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 and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- ExAC rs767638119
- TOPMed rs767638119
- gnomAD rs767638119
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.28
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available