L24C (p.Leu24Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
L24C (p.Leu24Cys) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L24C (p.Leu24Cys) variant details
- p.Leu24Cys
- gnomAD 9-134642255-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 25.80
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available
- Literature evidence available