M54T (p.Met54Thr) variant of HLA-DPA1 (P20036)
M54T (p.Met54Thr) in HLA-DPA1 (P20036) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DPA1*01:09. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M54T (p.Met54Thr) variant details
- p.Met54Thr
- rs1042175
- Ensembl rs1042175
- UniProt VAR 058834
- Benign
- in allele DPA1*01:09
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.21
- CADD 14.60
- PolyPhen-2 0.22
- SIFT 0.72
- EBI: Benign (in allele DPA1*01:09)
- UniProt: Benign (in allele DPA1*01:09)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available