G8* (p.Gly8Ter) variant of KCNQ5 (Q9NR82)
G8* (p.Gly8Ter) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G8* (p.Gly8Ter) variant details
- p.Gly8Ter
- cosmic curated COSV10463
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 37.00
- Population evidence available
- Structural context available