V67F (p.Val67Phe) variant of KCNJ5 (P48544)
V67F (p.Val67Phe) in KCNJ5 (P48544) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V67F (p.Val67Phe) variant details
- p.Val67Phe
- TOPMed rs1355039204
- gnomAD rs1355039204
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.07
- CADD 27.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available