G7R (p.Gly7Arg) variant of KCNQ5 (Q9NR82)
G7R (p.Gly7Arg) 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 0.57 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs2154471206
- ClinGen CA364823986
- ClinVar RCV001878530
- Ensembl rs2154471206
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.46
- CADD 28.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available