T137A (p.Thr137Ala) variant of SELENON (Selenoprotein N)
T137A (p.Thr137Ala) 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.
T137A (p.Thr137Ala) variant details
- p.Thr137Ala
- rs35019869
- UniProt VAR 038845
- Benign
- SEPN1-related disorder; not specified; not provided
- Missense
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.04
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Benign (SEPN1-related disorder; not specified; not provided)
- UniProt: Benign (in dbSNP:rs35019869)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)