G60A (p.Gly60Ala) variant of KCNQ2 (O43526)
G60A (p.Gly60Ala) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- gnomAD rs2082236203
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.37
- AlphaMissense 0.07
- MetaLR 0.92
- MetaSVM 0.89
- CADD 16.30
- PolyPhen-2 0.72
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available