D180A (p.Asp180Ala) variant of RAD21 (O60216)
D180A (p.Asp180Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
D180A (p.Asp180Ala) variant details
- p.Asp180Ala
- rs772085724
- ClinGen CA4853058
- ClinVar RCV000272825
- ClinVar RCV002518982
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- CADD 25.20
- PolyPhen-2 0.78
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)