L28V (p.Leu28Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L28V (p.Leu28Val) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- gnomAD 9-134642267-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available