L2153P (p.Leu2153Pro) variant of ARID1B (Q8NFD5)
L2153P (p.Leu2153Pro) 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 0.52 / 1. The record also includes published literature.
L2153P (p.Leu2153Pro) variant details
- p.Leu2153Pro
- rs1794550318
- ClinGen CA366248674
- ClinVar RCV001250800
- Ensembl rs1794550318
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- 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)