P28R (p.Pro28Arg) variant of SPTBN4 (Q9H254)
P28R (p.Pro28Arg) in SPTBN4 (Q9H254) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- gnomAD rs1200592638
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available