R41L (p.Arg41Leu) variant of AKT1 (P31749)
R41L (p.Arg41Leu) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- ExAC rs766000895
- TOPMed rs766000895
- gnomAD rs766000895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 23.80
- PolyPhen-2 0.36
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available