A22A (p.Ala22Ala) variant of KCNQ5 (Q9NR82)
A22A (p.Ala22Ala) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1286156412
- gnomAD 6-72622255-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 16.20
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available