P225L (p.Pro225Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
P225L (p.Pro225Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Steroid-resistant nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P225L (p.Pro225Leu) variant details
- p.Pro225Leu
- rs1196820381
- ClinGen CA413923740
- ClinVar RCV001003840
- gnomAD rs1196820381
- Likely pathogenic
- Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.68
- MetaLR 0.85
- MetaSVM 0.83
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.11
- ClinVar: Likely pathogenic (Steroid-resistant nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available