P89L (p.Pro89Leu) variant of SMARCE1 (Q969G3)
P89L (p.Pro89Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- rs2508604686
- ClinGen CA399367474
- ClinVar RCV003318024
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available