R25C (p.Arg25Cys) variant of AKT1 (P31749)
R25C (p.Arg25Cys) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cowden syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs397514644
- ClinGen CA130749
- cosmic curated COSV62575
- ClinVar RCV000033177
- Pathogenic
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cowden syndrome 6)
- EBI: Pathogenic (in CWS6)
- UniProt: Pathogenic (in CWS6)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: High-resolution structure of the pleckstrin homology domain of protein kinase b/akt bound to phosphatidylinositol… (PMID 12176338)
- Cited in: Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. (PMID 23246288)