A27A (p.Ala27Ala) variant of KCNQ5 (Q9NR82)
A27A (p.Ala27Ala) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- gnomAD 6-72622270-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available