A23A (p.Ala23Ala) variant of KCNQ5 (Q9NR82)
A23A (p.Ala23Ala) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1269286659
- gnomAD 6-72622258-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available