M1L (p.Met1Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
M1L (p.Met1Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1396602090
- ClinGen CA350845868
- ClinVar RCV000670747
- ClinVar RCV001382714
- Pathogenic/Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.47
- MetaSVM -0.48
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; not provid)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)