A27G (p.Ala27Gly) variant of KCNQ5 (Q9NR82)
A27G (p.Ala27Gly) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- gnomAD 6-72622266-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available