V54A (p.Val54Ala) variant of SPTB (Spectrin beta chain, erythrocytic)
V54A (p.Val54Ala) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The record also includes variant effect predictions.
V54A (p.Val54Ala) variant details
- p.Val54Ala
- cosmic curated COSV10532
- Missense
- MetaLR 0.04
- MetaSVM -0.98
- SIFT 1.00