L20C (p.Leu20Cys) variant of COL5A1 (Collagen alpha-1(V) chain)

Name: COL5A1 L20C (p.Leu20Cys) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

L20C (p.Leu20Cys) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.

L20C (p.Leu20Cys) variant details

p.Leu20Cys
gnomAD 9-134642243-TG-T
Frameshift
Variant Prioritization Score for Impact Estimate 0.242
CADD 22.80
Population evidence available
Structural context available
Literature evidence available