W17S (p.Trp17Ser) variant of KCNQ5 (Q9NR82)
W17S (p.Trp17Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
W17S (p.Trp17Ser) variant details
- p.Trp17Ser
- gnomAD 6-72622239-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.53
- CADD 25.10
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available