G199V (p.Gly199Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G199V (p.Gly199Val) in COL4A4 (Collagen alpha-4(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; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G199V (p.Gly199Val) variant details
- p.Gly199Val
- rs1559646395
- ClinGen CA350859865
- ClinVar RCV000735719
- ClinVar RCV006255818
- Likely pathogenic
- Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.59
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Benign familial hematuria)
- 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)