K34L (p.Lys34Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
K34L (p.Lys34Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K34L (p.Lys34Leu) variant details
- p.Lys34Leu
- rs1385106410
- gnomAD 2-227237970-T-TTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 25.90
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available