I36T (p.Ile36Thr) variant of AKT1 (P31749)
I36T (p.Ile36Thr) 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 0.35 / 1. The record also includes population frequency data and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- rs758157217
- ClinGen CA7374904
- ClinVar RCV000686512
- ExAC rs758157217
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 22.70
- PolyPhen-2 0.83
- SIFT 0.06
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available