D213V (p.Asp213Val) variant of RAD21 (O60216)
D213V (p.Asp213Val) 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 0.32 / 1. The record also includes population frequency data and published literature.
D213V (p.Asp213Val) variant details
- p.Asp213Val
- rs1323894024
- ClinGen CA372006154
- ClinVar RCV003385112
- gnomAD rs1323894024
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)