T34N (p.Thr34Asn) variant of AKT1 (P31749)
T34N (p.Thr34Asn) 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 0.45 / 1. The record also includes population frequency data and structural context.
T34N (p.Thr34Asn) variant details
- p.Thr34Asn
- rs750653493
- ClinGen CA7374906
- ClinVar RCV001060365
- ExAC rs750653493
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 22.70
- PolyPhen-2 0.06
- 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 1.5e-05)
- Structural context available