W94R (p.Trp94Arg) variant of SMARCE1 (Q969G3)
W94R (p.Trp94Arg) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
W94R (p.Trp94Arg) variant details
- p.Trp94Arg
- rs1085307924
- ClinGen CA399367413
- ClinVar RCV000489341
- Ensembl rs1085307924
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available