I26N (p.Ile26Asn) variant of PMS2 (P54278)
I26N (p.Ile26Asn) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
I26N (p.Ile26Asn) variant details
- p.Ile26Asn
- Ensembl rs1583419301
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available