C50C (p.Cys50Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
C50C (p.Cys50Cys) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C50C (p.Cys50Cys) variant details
- p.Cys50Cys
- rs559102186
- gnomAD 2-188984830-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 12.60
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available