P9L (p.Pro9Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
P9L (p.Pro9Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal dominant Alport syndrome; Hematuria, benign familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs773820821
- ClinGen CA66565451
- ClinVar RCV003227352
- ClinVar RCV003491348
- Uncertain significance
- not provided; Autosomal dominant Alport syndrome; Hematuria, benign familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.15
- CADD 8.11
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided; Autosomal dominant Alport syndrome; Hematuria, ben)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)