C112Y (p.Cys112Tyr) variant of UNC13D (Protein unc-13 homolog D)
C112Y (p.Cys112Tyr) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C112Y (p.Cys112Tyr) variant details
- p.Cys112Tyr
- ESP rs141540493
- ExAC rs141540493
- TOPMed rs141540493
- gnomAD rs141540493
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.17
- CADD 25.70
- PolyPhen-2 0.49
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available