I36V (p.Ile36Val) variant of AKT1 (P31749)
I36V (p.Ile36Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- rs781339141
- ClinGen CA7374905
- ClinVar RCV000465998
- ExAC rs781339141
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.20
- SIFT 0.32
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available