M1K (p.Met1Lys) variant of COL4A5 (Collagen alpha-5(IV) chain)
M1K (p.Met1Lys) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1569469409
- ClinGen CA413905868
- ClinVar RCV002262191
- Pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- MetaLR 0.73
- MetaSVM 0.55
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)