K92N (p.Lys92Asn) variant of SMARCE1 (Q969G3)
K92N (p.Lys92Asn) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Coffin-Siris syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
K92N (p.Lys92Asn) variant details
- p.Lys92Asn
- rs1555605795
- ClinGen CA399367436
- ClinVar RCV000677665
- Ensembl rs1555605795
- Likely pathogenic
- Coffin-Siris syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.86
- PolyPhen-2 0.07
- SIFT 0.01
- EVE 0.96
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available