G11C (p.Gly11Cys) variant of KCNQ5 (Q9NR82)
G11C (p.Gly11Cys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 6-72622220-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.53
- CADD 28.40
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available