K1021E (p.Lys1021Glu) variant of ARID1A (O14497)
K1021E (p.Lys1021Glu) in ARID1A (O14497) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coffin-Siris syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
K1021E (p.Lys1021Glu) variant details
- p.Lys1021Glu
- rs2081052495
- ClinGen CA339163119
- ClinVar RCV001251896
- Ensembl rs2081052495
- Pathogenic
- Coffin-Siris syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.83
- MetaLR 0.17
- MetaSVM -0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Coffin-Siris syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)