G12S (p.Gly12Ser) variant of KCNQ5 (Q9NR82)
G12S (p.Gly12Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 6-72622223-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.45
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available