V38M (p.Val38Met) variant of KCNJ3 (P48549)
V38M (p.Val38Met) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- TOPMed rs1048782016
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available