G252S (p.Gly252Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
G252S (p.Gly252Ser) 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 Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G252S (p.Gly252Ser) variant details
- p.Gly252Ser
- rs2060673883
- ClinGen CA350858411
- ClinVar RCV001706769
- ClinVar RCV001868397
- Conflicting interpretations
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.75
- MetaLR 0.92
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)