P69T (p.Pro69Thr) variant of KCNJ11 (Q14654)
P69T (p.Pro69Thr) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P69T (p.Pro69Thr) variant details
- p.Pro69Thr
- ESP rs372565142
- ExAC rs372565142
- TOPMed rs372565142
- gnomAD rs372565142
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available