L27R (p.Leu27Arg) variant of COL5A1 (Collagen alpha-1(V) chain)

Name: COL5A1 L27R (p.Leu27Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

L27R (p.Leu27Arg) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.

L27R (p.Leu27Arg) variant details

p.Leu27Arg
gnomAD 9-134642266-CTGCT
Frameshift
Variant Prioritization Score for Impact Estimate 0.536
CADD 31.00
Population evidence available
Structural context available
Literature evidence available