G30G (p.Gly30Gly) variant of KCNQ5 (Q9NR82)
G30G (p.Gly30Gly) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs1434168919
- gnomAD 6-72622279-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 15.60
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Literature evidence available