A122T (p.Ala122Thr) variant of SPTBN2 (O15020)
A122T (p.Ala122Thr) in SPTBN2 (O15020) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes population frequency data.
A122T (p.Ala122Thr) variant details
- p.Ala122Thr
- rs376084729
- cosmic curated COSV59451
- ESP rs376084729
- ExAC rs376084729
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available