G11A (p.Gly11Ala) variant of KCNQ5 (Q9NR82)
G11A (p.Gly11Ala) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD 6-72622218-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available