S25A (p.Ser25Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
S25A (p.Ser25Ala) in COL4A4 (Collagen alpha-4(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 0.43 / 1. The record also includes structural context.
S25A (p.Ser25Ala) variant details
- p.Ser25Ala
- rs2125348343
- ClinGen CA350842729
- ClinVar RCV002267338
- Ensembl rs2125348343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.08
- MetaLR 0.40
- MetaSVM -0.70
- PolyPhen-2 0.23
- SIFT 0.52
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available