M2035T (p.Met2035Thr) variant of ARID1B (Q8NFD5)
M2035T (p.Met2035Thr) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfanoid habitus and intellectual disability; 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.
M2035T (p.Met2035Thr) variant details
- p.Met2035Thr
- rs1583516082
- ClinGen CA366247891
- ClinVar RCV000850432
- ClinVar RCV002226742
- Likely pathogenic
- Marfanoid habitus and intellectual disability; Coffin-Siris syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.99
- MetaLR 0.14
- MetaSVM -0.82
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Marfanoid habitus and intellectual disability; Coffin-Siris synd)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)
- Cited in: ARID1B-Related Disorder. (PMID 31132234)