P22del (p.Pro22del) variant of COL5A1 (Collagen alpha-1(V) chain)

Name: COL5A1 P22del (p.Pro22del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

P22del (p.Pro22del) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.

P22del (p.Pro22del) variant details

gnomAD 9-134642247-GCCC-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.608
CADD 13.90
Population evidence available
Structural context available
Literature evidence available