R65Q (p.Arg65Gln) variant of RAD21 (O60216)
R65Q (p.Arg65Gln) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs773855925
- ClinGen CA4853140
- NCI-TCGA Cosmic COSV5205
- ClinVar RCV000623219
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.68
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)