A23S (p.Ala23Ser) variant of KCNQ5 (Q9NR82)
A23S (p.Ala23Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 6-72622256-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.41
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available