D3N (p.Asp3Asn) variant of AKT1 (P31749)
D3N (p.Asp3Asn) 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 0.70 / 1. The record also includes population frequency data.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs140532443
- ClinGen CA7374951
- cosmic curated COSV62577
- ClinVar RCV000461062
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0002)