R66P (p.Arg66Pro) variant of UNC13D (Protein unc-13 homolog D)
R66P (p.Arg66Pro) 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 0.70 / 1. The record also includes population frequency data and structural context.
R66P (p.Arg66Pro) variant details
- p.Arg66Pro
- ESP rs371943727
- ExAC rs371943727
- TOPMed rs371943727
- gnomAD rs371943727
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.61
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available