L28del (p.Leu28del) variant of COL5A1 (Collagen alpha-1(V) chain)

Name: COL5A1 L28del (p.Leu28del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

L28del (p.Leu28del) 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.

L28del (p.Leu28del) variant details

rs773994971
gnomAD 9-134642252-CGCT-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.276
CADD 18.00
Most common in the South Asian population (allele frequency 0.0081)
Structural context available
Literature evidence available