E10G (p.Glu10Gly) variant of KCNQ5 (Q9NR82)
E10G (p.Glu10Gly) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- gnomAD 6-72622218-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.42
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available