I36N (p.Ile36Asn) variant of AKT1 (P31749)
I36N (p.Ile36Asn) in AKT1 (P31749) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I36N (p.Ile36Asn) variant details
- p.Ile36Asn
- ExAC rs758157217
- TOPMed rs758157217
- gnomAD rs758157217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 20.80
- PolyPhen-2 0.41
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available