V2075G (p.Val2075Gly) variant of ARID1B (Q8NFD5)
V2075G (p.Val2075Gly) 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.
V2075G (p.Val2075Gly) variant details
- p.Val2075Gly
- Ensembl rs2128396679
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 1)
- UniProt: Likely pathogenic