p.Glu3 Pro15del variant of KCNQ4 (P56696)
p.Glu3 Pro15del in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu3 Pro15del variant details
- gnomAD 1-40784097-GCCGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 18.50
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Literature evidence available