G113D (p.Gly113Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G113D (p.Gly113Asp) 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; Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- rs766085522
- ClinGen CA2145693
- ClinVar RCV001245812
- ClinVar RCV001829969
- Conflicting interpretations
- Autosomal recessive Alport syndrome; Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.96
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive Alport syndrome; Alport syndrome; Hematuria,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)