G6D (p.Gly6Asp) variant of KCNJ11 (Q14654)
G6D (p.Gly6Asp) in KCNJ11 (Q14654) 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 0.67 / 1. The record also includes population frequency data and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- TOPMed rs1388209372
- gnomAD rs1388209372
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.59
- CADD 26.00
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available