G7E (p.Gly7Glu) variant of KCNQ5 (Q9NR82)
G7E (p.Gly7Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- gnomAD 6-72622209-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.46
- CADD 28.10
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available