p.Ser24 Leu25insPhePhe variant of COL1A2 (Collagen alpha-2(I) chain)

Name: COL1A2 p.Ser24 Leu25insPhePhe variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Ser24 Leu25insPhePhe in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ser24 Leu25insPhePhe variant details

gnomAD 7-94397748-C-CTTT
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.469
CADD 17.40
Population evidence available
Structural context available
Literature evidence available