G101R (p.Gly101Arg) variant of SMARCE1 (Q969G3)
G101R (p.Gly101Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- rs2143997384
- ClinGen CA399367290
- ClinVar RCV001773812
- Ensembl rs2143997384
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available