G15E (p.Gly15Glu) variant of KCNQ5 (Q9NR82)
G15E (p.Gly15Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G15E (p.Gly15Glu) variant details
- p.Gly15Glu
- gnomAD 6-72622233-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.64
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available