A27E (p.Ala27Glu) variant of KCNQ5 (Q9NR82)
A27E (p.Ala27Glu) 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.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- gnomAD 6-72622269-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.44
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available