A13A (p.Ala13Ala) variant of KCNQ5 (Q9NR82)
A13A (p.Ala13Ala) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 6-72622228-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available