A13D (p.Ala13Asp) variant of KCNQ5 (Q9NR82)
A13D (p.Ala13Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 6-72622227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.48
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available