D46E (p.Asp46Glu) variant of AKT1 (P31749)
D46E (p.Asp46Glu) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Cowden syndrome 6; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs146875699
- ClinGen CA156577
- cosmic curated COSV62571
- ClinVar RCV000119959
- Conflicting interpretations
- Hereditary cancer; Cowden syndrome 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 13.10
- PolyPhen-2 0.17
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Cowden syndrome 6; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)