L1656S (p.Leu1656Ser) variant of ATRX (Chromatin remodeler ATRX)
L1656S (p.Leu1656Ser) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
L1656S (p.Leu1656Ser) variant details
- p.Leu1656Ser
- Ensembl rs2148338460
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available