G230S (p.Gly230Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G230S (p.Gly230Ser) 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 Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
G230S (p.Gly230Ser) variant details
- p.Gly230Ser
- rs2125932297
- ClinGen CA350864874
- ClinVar RCV001570144
- ClinVar RCV002476872
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.35
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Benign fam)
- 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)