R64G (p.Arg64Gly) variant of SETD5 (Q9C0A6)
R64G (p.Arg64Gly) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R64G (p.Arg64Gly) variant details
- p.Arg64Gly
- rs995856475
- ClinGen CA69948982
- ClinVar RCV003683326
- ClinVar RCV005485460
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- MetaLR 0.52
- MetaSVM 0.01
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)