T16M (p.Thr16Met) variant of HLA-DPB1 (P04440)
T16M (p.Thr16Met) in HLA-DPB1 (P04440) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
T16M (p.Thr16Met) variant details
- p.Thr16Met
- rs41558014
- 1000Genomes rs41558014
- ESP rs41558014
- ExAC rs41558014
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0388
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Benign (not provided)
- EBI: Benign (in allele DPB1*09:02)
- UniProt: Benign (in allele DPB1*09:02)
- Most common in the HGDP:LAHU population (allele frequency 0.3)
- Structural context available