C32C (p.Cys32Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
C32C (p.Cys32Cys) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C32C (p.Cys32Cys) variant details
- p.Cys32Cys
- rs1296448513
- gnomAD 2-188984776-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 12.20
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available