p.Ala25 Ala27del variant of KCNQ5 (Q9NR82)
p.Ala25 Ala27del in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala25 Ala27del variant details
- rs568022266
- gnomAD 6-72622255-AGCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available