I6V (p.Ile6Val) variant of AKT1 (P31749)
I6V (p.Ile6Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs1893685625
- ClinGen CA391223937
- ClinVar RCV001306742
- Ensembl rs1893685625
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available