D364N (p.Asp364Asn) variant of ARID1B (Q8NFD5)
D364N (p.Asp364Asn) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Coffin-Siris syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
D364N (p.Asp364Asn) variant details
- p.Asp364Asn
- TOPMed rs1778897511
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.00
- MetaSVM -0.91
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 1)
- UniProt: Likely pathogenic
- Population evidence available