C41* (p.Cys41Ter) variant of COL4A3 (Collagen alpha-3(IV) chain)
C41* (p.Cys41Ter) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C41* (p.Cys41Ter) variant details
- p.Cys41Ter
- gnomAD 2-227238003-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available