H43R (p.His43Arg) variant of SETD5 (Q9C0A6)
H43R (p.His43Arg) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- rs765631607
- ClinGen CA2238837
- cosmic curated COSV56711
- ClinVar RCV002702524
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.31
- MetaLR 0.61
- MetaSVM -0.00
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)