Y35H (p.Tyr35His) variant of COL4A4 (Collagen alpha-4(IV) chain)
Y35H (p.Tyr35His) 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 0.23 / 1. The record also includes population frequency data and structural context.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- rs2063418861
- ClinGen CA350842667
- ClinVar RCV002279114
- TOPMed rs2063418861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.17
- CADD 9.14
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available