K34* (p.Lys34Ter) variant of COL4A3 (Collagen alpha-3(IV) chain)
K34* (p.Lys34Ter) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
K34* (p.Lys34Ter) variant details
- p.Lys34Ter
- gnomAD rs2068791080
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available