L37V (p.Leu37Val) variant of HLA-DPB1 (P04440)
L37V (p.Leu37Val) in HLA-DPB1 (P04440) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- rs1126504
- 1000Genomes rs1126504
- ESP rs1126504
- ExAC rs1126504
- Benign
- in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.32
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, alle)
- UniProt: Benign (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, alle)
- Most common in the 1KG:YRI population (allele frequency 0.76)
- Structural context available