A25E (p.Ala25Glu) variant of KCNQ5 (Q9NR82)
A25E (p.Ala25Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- gnomAD 6-72622263-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.54
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available