C67S (p.Cys67Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
C67S (p.Cys67Ser) 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 0.93 / 1. The record also includes structural context.
C67S (p.Cys67Ser) variant details
- p.Cys67Ser
- rs1085307576
- ClinGen CA349847185
- ClinVar RCV000489656
- Ensembl rs1085307576
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available