G252V (p.Gly252Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G252V (p.Gly252Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G252V (p.Gly252Val) variant details
- p.Gly252Val
- rs760795817
- ClinGen CA2145435
- ClinVar RCV000786980
- ClinVar RCV005004420
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.79
- AlphaMissense 0.74
- MetaLR 0.93
- MetaSVM 1.08
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)