Q47H (p.Gln47His) variant of AKT1 (P31749)
Q47H (p.Gln47His) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Q47H (p.Gln47His) variant details
- p.Gln47His
- rs532268608
- 1000Genomes rs532268608
- ExAC rs532268608
- gnomAD rs532268608
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)