G28A (p.Gly28Ala) variant of KCNQ5 (Q9NR82)
G28A (p.Gly28Ala) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD 6-72622269-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available