R27Q (p.Arg27Gln) variant of RAD51 (Q06609)
R27Q (p.Arg27Gln) in RAD51 (Q06609) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs778132081
- ClinGen CA7483904
- ClinVar RCV002419482
- ClinVar RCV003403808
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)