L21P (p.Leu21Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21P (p.Leu21Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- Ensembl rs2065150280
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.52
- CADD 21.70
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available