E9Q (p.Glu9Gln) variant of KCNQ5 (Q9NR82)
E9Q (p.Glu9Gln) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- gnomAD 6-72622214-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Literature evidence available