L49Q (p.Leu49Gln) variant of AKT2 (P31751)
L49Q (p.Leu49Gln) in AKT2 (P31751) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L49Q (p.Leu49Gln) variant details
- p.Leu49Gln
- 1000Genomes rs201917021
- ExAC rs201917021
- TOPMed rs201917021
- gnomAD rs201917021
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available