G30E (p.Gly30Glu) variant of KCNQ5 (Q9NR82)
G30E (p.Gly30Glu) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- rs756542782
- ClinGen CA364824127
- ClinVar RCV001902590
- ExAC rs756542782
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.7e-05)
- Structural context available