G28S (p.Gly28Ser) variant of KCNQ5 (Q9NR82)
G28S (p.Gly28Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- gnomAD 6-72622271-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.38
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available