N502K (p.Asn502Lys) variant of SELENON (Selenoprotein N)
N502K (p.Asn502Lys) in SELENON (Selenoprotein N) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of SEPN1-related disorder; not specified; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
N502K (p.Asn502Lys) variant details
- p.Asn502Lys
- rs2294228
- UniProt VAR 038847
- Benign
- SEPN1-related disorder; not specified; not provided
- Missense
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -1.00
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Benign (SEPN1-related disorder; not specified; not provided)
- UniProt: Benign (in dbSNP:rs2294228)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)