G45C (p.Gly45Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G45C (p.Gly45Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive Alport syndrome; Benign familial hematuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- rs753016038
- ClinGen CA2145779
- ClinVar RCV001769123
- ClinVar RCV006256914
- Conflicting interpretations
- Autosomal recessive Alport syndrome; Benign familial hematuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.40
- CADD 21.50
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive Alport syndrome; Benign familial hematuria;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)