R13H (p.Arg13His) variant of CHAMP1 (Q96JM3)
R13H (p.Arg13His) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs138074590
- ClinGen CA7070576
- cosmic curated COSV63522
- ClinVar RCV002965607
- Likely benign
- Inborn genetic diseases; Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.90
- CADD 21.00
- ClinVar: Likely benign (Inborn genetic diseases; Complex neurodevelopmental disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- 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)