A4P (p.Ala4Pro) variant of KCNQ4 (P56696)
A4P (p.Ala4Pro) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 1-40784101-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available