C57R (p.Cys57Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
C57R (p.Cys57Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C57R (p.Cys57Arg) variant details
- p.Cys57Arg
- rs2476899951
- ClinGen CA350866295
- ClinVar RCV002469716
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available