H46L (p.His46Leu) variant of PRKAA1 (Q13131)
H46L (p.His46Leu) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H46L (p.His46Leu) variant details
- p.His46Leu
- ESP rs374595923
- ExAC rs374595923
- TOPMed rs374595923
- gnomAD rs374595923
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.71
- MetaLR 0.34
- MetaSVM -0.31
- CADD 26.30
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available