D45E (p.Asp45Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
D45E (p.Asp45Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- rs375778172
- ClinGen CA384526555
- ClinVar RCV002716389
- 1000Genomes rs375778172
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- CADD 19.10
- PolyPhen-2 0.18
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)