D170Y (p.Asp170Tyr) variant of PROC (Vitamin K-dependent protein C)
D170Y (p.Asp170Tyr) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D170Y (p.Asp170Tyr) variant details
- p.Asp170Tyr
- rs2104954946
- ClinGen CA348400181
- ClinVar RCV002245356
- Ensembl rs2104954946
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.59
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available