A27del (p.Ala27del) variant of KCNQ5 (Q9NR82)
A27del (p.Ala27del) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A27del (p.Ala27del) variant details
- gnomAD 6-72622252-CGCA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available