C55F (p.Cys55Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
C55F (p.Cys55Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C55F (p.Cys55Phe) variant details
- p.Cys55Phe
- rs570529667
- ClinGen CA2145773
- ClinVar RCV001927883
- ClinVar RCV006256978
- Uncertain significance
- not provided; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Autosomal recessive Alport syndrome; Benign famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)