p.Gly8 Glu9insTer variant of KCNQ5 (Q9NR82)
p.Gly8 Glu9insTer in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly8 Glu9insTer variant details
- gnomAD 6-72622211-G-GGCT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available