G30A (p.Gly30Ala) variant of KCNQ5 (Q9NR82)
G30A (p.Gly30Ala) 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.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD 6-72622266-CGGCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available