P12S (p.Pro12Ser) variant of KCNQ2 (O43526)
P12S (p.Pro12Ser) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD rs867696324
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available