R64H (p.Arg64His) variant of SETD5 (Q9C0A6)
R64H (p.Arg64His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs368353953
- ClinGen CA2238882
- ClinVar RCV001596600
- ClinVar RCV002573363
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.22
- MetaLR 0.47
- MetaSVM -0.30
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)