G12C (p.Gly12Cys) variant of KCNQ5 (Q9NR82)
G12C (p.Gly12Cys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 6-72622223-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.56
- CADD 28.90
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available