A28T (p.Ala28Thr) variant of COL4A5 (Collagen alpha-5(IV) chain)
A28T (p.Ala28Thr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs869025333
- ClinGen CA413908399
- ClinVar RCV001768671
- Ensembl rs869025333
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.30
- MetaLR 0.40
- MetaSVM -0.48
- PolyPhen-2 0.32
- SIFT 0.09
- EVE 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available