G8E (p.Gly8Glu) variant of KCNQ5 (Q9NR82)
G8E (p.Gly8Glu) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs764586130
- ClinGen CA141452100
- cosmic curated COSV10520
- ClinVar RCV001937237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available