L12M (p.Leu12Met) variant of COL4A5 (Collagen alpha-5(IV) chain)
L12M (p.Leu12Met) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- TOPMed rs199693699
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.11
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0001)
- Structural context available