V47A (p.Val47Ala) variant of KCNJ3 (P48549)
V47A (p.Val47Ala) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- TOPMed rs1323586199
- gnomAD rs1323586199
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available