W104R (p.Trp104Arg) variant of SMARCE1 (Q969G3)
W104R (p.Trp104Arg) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tessier cleft. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W104R (p.Trp104Arg) variant details
- p.Trp104Arg
- rs2143997365
- ClinGen CA399367242
- ClinVar RCV001526653
- ClinVar RCV006254278
- Pathogenic
- Tessier cleft
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Tessier cleft)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available