I47V (p.Ile47Val) variant of ATRX (Chromatin remodeler ATRX)
I47V (p.Ile47Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- rs782584831
- ClinGen CA10458370
- cosmic curated COSV10096
- ClinVar RCV002255204
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.58
- MetaSVM -0.13
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)