P14Q (p.Pro14Gln) variant of KCNQ2 (O43526)
P14Q (p.Pro14Gln) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- Ensembl rs868166046
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.48
- Population evidence available
- Structural context available