A59P (p.Ala59Pro) variant of UNC13D (Protein unc-13 homolog D)
A59P (p.Ala59Pro) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A59P (p.Ala59Pro) variant details
- p.Ala59Pro
- 1000Genomes rs9904366
- ESP rs9904366
- ExAC rs9904366
- TOPMed rs9904366
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.48
- CADD 21.70
- PolyPhen-2 0.32
- SIFT 0.04
- EBI: Benign (in dbSNP:rs9904366)
- UniProt: Benign (in dbSNP:rs9904366)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available