S3F (p.Ser3Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
S3F (p.Ser3Phe) 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 not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- rs201403066
- ClinGen CA2145873
- ClinVar RCV000928067
- ClinVar RCV001274064
- Conflicting interpretations
- not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- CADD 1.01
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive Alport syndrome; Hematuria, be)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)