A59T (p.Ala59Thr) variant of UNC13D (Protein unc-13 homolog D)
A59T (p.Ala59Thr) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoinflammatory syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- rs9904366
- ClinGen CA8773587
- cosmic curated COSV52884
- ClinVar RCV000252059
- Conflicting interpretations
- Autoinflammatory syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; not specified; not provided)
- EBI: Benign (in dbSNP:rs9904366)
- UniProt: Benign (in dbSNP:rs9904366)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available