C70Y (p.Cys70Tyr) variant of COL1A1 (Collagen alpha-1(I) chain)
C70Y (p.Cys70Tyr) in COL1A1 (Collagen alpha-1(I) 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 0.89 / 1. The record also includes population frequency data and structural context.
C70Y (p.Cys70Tyr) variant details
- p.Cys70Tyr
- rs1221233834
- ClinGen CA400228332
- ClinVar RCV001754998
- gnomAD rs1221233834
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available