R64C (p.Arg64Cys) variant of SETD5 (Q9C0A6)
R64C (p.Arg64Cys) in SETD5 (Q9C0A6) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- rs995856475
- ClinGen CA351682462
- cosmic curated COSV56711
- ClinVar RCV002818798
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.42
- MetaLR 0.71
- MetaSVM 0.50
- CADD 27.70
- PolyPhen-2 0.72
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)