H54Y (p.His54Tyr) variant of ERCC5 (P28715)
H54Y (p.His54Tyr) in ERCC5 (P28715) 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 0.78 / 1. The record also includes population frequency data and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- rs1333614535
- ClinGen CA388566861
- ClinVar RCV001761455
- TOPMed rs1333614535
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available