Q133H (p.Gln133His) variant of PRKAA1 (Q13131)
Q133H (p.Gln133His) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q133H (p.Gln133His) variant details
- p.Gln133His
- TOPMed rs1743760003
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.61
- MetaLR 0.22
- MetaSVM -0.63
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available