P270R (p.Pro270Arg) variant of ATRX (Chromatin remodeler ATRX)
P270R (p.Pro270Arg) 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 0.88 / 1. The record also includes structural context.
P270R (p.Pro270Arg) variant details
- p.Pro270Arg
- Ensembl rs2148637532
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- ESM-1b 1.00
- AlphaMissense 0.73
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available