A130T (p.Ala130Thr) variant of PYGM (P11217)
A130T (p.Ala130Thr) in PYGM (P11217) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- NCI-TCGA Cosmic COSV9937
- cosmic curated COSV99377
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available