R10H (p.Arg10His) variant of ASXL3 (Q9C0F0)
R10H (p.Arg10His) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs773417248
- ClinGen CA8933435
- ClinVar RCV002742305
- ExAC rs773417248
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- 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)