E10del (p.Glu10del) variant of KCNQ5 (Q9NR82)
E10del (p.Glu10del) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E10del (p.Glu10del) variant details
- gnomAD 6-72622213-AGAG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available