C41C (p.Cys41Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
C41C (p.Cys41Cys) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
C41C (p.Cys41Cys) variant details
- p.Cys41Cys
- rs1261122382
- gnomAD 2-227238003-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.17
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available