I112N (p.Ile112Asn) variant of TPMT (Thiopurine S-methyltransferase)
I112N (p.Ile112Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
I112N (p.Ile112Asn) variant details
- p.Ile112Asn
- Ensembl rs886061266
- Uncertain significance
- Missense
- MetaLR 0.42
- MetaSVM -0.43
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available