E59D (p.Glu59Asp) variant of HLA-DPA1 (P20036)
E59D (p.Glu59Asp) in HLA-DPA1 (P20036) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- rs2308910
- 1000Genomes rs2308910
- ESP rs2308910
- ExAC rs2308910
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0566
- REVEL 0.06
- CADD 0.37
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Benign (in allele DPA1*01:04, allele DPA1*01:08, allele DPA1*03:03 and a)
- UniProt: Benign (in allele DPA1*01:04, allele DPA1*01:08, allele DPA1*03:03 and a)
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available