D45Y (p.Asp45Tyr) variant of COL2A1 (Collagen alpha-1(II) chain)
D45Y (p.Asp45Tyr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- rs202145830
- ClinGen CA236495038
- ClinVar RCV003879830
- gnomAD rs202145830
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.47
- CADD 28.80
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available