C32Y (p.Cys32Tyr) variant of COL3A1 (Collagen alpha-1(III) chain)
C32Y (p.Cys32Tyr) in COL3A1 (Collagen alpha-1(III) 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 0.96 / 1. The record also includes structural context.
C32Y (p.Cys32Tyr) variant details
- p.Cys32Tyr
- rs2153501342
- ClinGen CA349846823
- ClinVar RCV001768715
- Ensembl rs2153501342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available