A6E (p.Ala6Glu) variant of KCNQ5 (Q9NR82)
A6E (p.Ala6Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- gnomAD 6-72622206-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available