G9D (p.Gly9Asp) variant of KCNB1 (Q14721)
G9D (p.Gly9Asp) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- TOPMed rs1980533174
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.56
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available