V2022G (p.Val2022Gly) variant of ARID1B (Q8NFD5)
V2022G (p.Val2022Gly) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes published literature.
V2022G (p.Val2022Gly) variant details
- p.Val2022Gly
- rs2128395673
- ClinGen CA366247805
- ClinVar RCV002470630
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)
- Cited in: ARID1B-Related Disorder. (PMID 31132234)