T12I (p.Thr12Ile) variant of PRKAA1 (Q13131)
T12I (p.Thr12Ile) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- TOPMed rs1382314545
- gnomAD rs1382314545
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.88
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available