M1T (p.Met1Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
M1T (p.Met1Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553725815
- ClinGen CA350845870
- ClinVar RCV000673067
- Likely pathogenic
- Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- MetaLR 0.58
- MetaSVM 0.02
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.94
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)