L48W (p.Leu48Trp) variant of PRKAA1 (Q13131)
L48W (p.Leu48Trp) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L48W (p.Leu48Trp) variant details
- p.Leu48Trp
- gnomAD rs1198171523
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.51
- MetaLR 0.38
- MetaSVM -0.28
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available