N3H (p.Asn3His) variant of ARID2 (Q68CP9)
N3H (p.Asn3His) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Coffin-Siris syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N3H (p.Asn3His) variant details
- p.Asn3His
- rs868029449
- ClinGen CA236966917
- ClinVar RCV001332970
- gnomAD rs868029449
- Uncertain significance
- Coffin-Siris syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.03
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Coffin-Siris syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)