G90D (p.Gly90Asp) variant of KCNQ2 (O43526)
G90D (p.Gly90Asp) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- Ensembl rs865908224
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.85
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available