Y37C (p.Tyr37Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
Y37C (p.Tyr37Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y37C (p.Tyr37Cys) variant details
- p.Tyr37Cys
- rs750707504
- ClinGen CA2145804
- ClinVar RCV001774094
- ExAC rs750707504
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.19
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available