D11Y (p.Asp11Tyr) variant of KCNJ3 (P48549)
D11Y (p.Asp11Tyr) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D11Y (p.Asp11Tyr) variant details
- p.Asp11Tyr
- ExAC rs750258804
- TOPMed rs750258804
- gnomAD rs750258804
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.61
- CADD 29.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available