E10E (p.Glu10Glu) variant of KCNQ5 (Q9NR82)
E10E (p.Glu10Glu) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- gnomAD 6-72622219-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 14.20
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available