R25K (p.Arg25Lys) variant of UNC13D (Protein unc-13 homolog D)
R25K (p.Arg25Lys) 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 0.29 / 1. The record also includes population frequency data and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- TOPMed rs1013790378
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available