Q78R (p.Gln78Arg) variant of KCNQ2 (O43526)
Q78R (p.Gln78Arg) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- Ensembl rs2145921220
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.76
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available