G12G (p.Gly12Gly) variant of KCNQ5 (Q9NR82)
G12G (p.Gly12Gly) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- gnomAD 6-72622225-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 15.40
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Literature evidence available