G16D (p.Gly16Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G16D (p.Gly16Asp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD 11-2445145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.74
- CADD 18.60
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available