R83P (p.Arg83Pro) variant of UNC13D (Protein unc-13 homolog D)
R83P (p.Arg83Pro) 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 0.09 / 1. The record also includes population frequency data and structural context.
R83P (p.Arg83Pro) variant details
- p.Arg83Pro
- ESP rs143944122
- ExAC rs143944122
- TOPMed rs143944122
- gnomAD rs143944122
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0888
- REVEL 0.09
- CADD 3.87
- PolyPhen-2 0.11
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available