G28C (p.Gly28Cys) variant of KCNQ5 (Q9NR82)
G28C (p.Gly28Cys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- gnomAD 6-72622271-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.51
- CADD 25.50
- PolyPhen-2 0.54
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available