A26S (p.Ala26Ser) variant of KCNQ5 (Q9NR82)
A26S (p.Ala26Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 6-72622265-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.42
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available