G28V (p.Gly28Val) variant of KCNQ5 (Q9NR82)
G28V (p.Gly28Val) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD 6-72622260-CGGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available
- Literature evidence available