L26P (p.Leu26Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L26P (p.Leu26Pro) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- gnomAD 9-134642263-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available