p.Leu28dup variant of COL5A1 (Collagen alpha-1(V) chain)

Name: COL5A1 p.Leu28dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

p.Leu28dup in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.

p.Leu28dup variant details

rs773994971
gnomAD 9-134642252-C-CGC
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.279
CADD 18.50
Most common in the 1KG:MXL population (allele frequency 0.0082)
Structural context available
Literature evidence available