K92Q (p.Lys92Gln) variant of SMARCE1 (Q969G3)
K92Q (p.Lys92Gln) 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 0.86 / 1. The record also includes structural context.
K92Q (p.Lys92Gln) variant details
- p.Lys92Gln
- rs2143997424
- ClinGen CA399367448
- ClinVar RCV001816201
- Ensembl rs2143997424
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.82
- SIFT 0.14
- EVE 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available