A14A (p.Ala14Ala) variant of KCNQ5 (Q9NR82)
A14A (p.Ala14Ala) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1049687889
- gnomAD 6-72622231-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available