I6T (p.Ile6Thr) variant of AKT1 (P31749)
I6T (p.Ile6Thr) 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 0.57 / 1. The record also includes population frequency data and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs1404637346
- ClinGen CA391223931
- ClinVar RCV002908309
- gnomAD rs1404637346
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available