W104S (p.Trp104Ser) variant of SMARCE1 (Q969G3)
W104S (p.Trp104Ser) 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 0.97 / 1. The record also includes structural context.
W104S (p.Trp104Ser) variant details
- p.Trp104Ser
- rs397509407
- ClinGen CA16620402
- ClinVar RCV000479805
- Ensembl rs397509407
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available