A2A (p.Ala2Ala) variant of KCNQ4 (P56696)
A2A (p.Ala2Ala) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1417838891
- gnomAD 1-40784099-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 14.60
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Literature evidence available