A24S (p.Ala24Ser) variant of KCNQ5 (Q9NR82)
A24S (p.Ala24Ser) in KCNQ5 (Q9NR82) is a missense 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.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 6-72622259-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.42
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available