N26K (p.Asn26Lys) variant of PRKAR1A (P10644)
N26K (p.Asn26Lys) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or w. The record also includes structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- Ensembl rs2143150814
- Uncertain significance
- Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or w
- Missense
- ClinVar: Uncertain significance (Pigmented nodular adrenocortical disease, primary, 1; Acrodysost)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available