S88L (p.Ser88Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
S88L (p.Ser88Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
S88L (p.Ser88Leu) variant details
- p.Ser88Leu
- rs1236298157
- ClinGen CA350863346
- ClinVar RCV003117964
- TOPMed rs1236298157
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.27
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available