R55L (p.Arg55Leu) variant of HLA-DQB1 (P01920)
R55L (p.Arg55Leu) in HLA-DQB1 (P01920) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DQB1*04:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- rs41540813
- cosmic curated COSV66574
- UniProt VAR 062692
- 1000Genomes rs41540813
- Benign
- in allele DQB1*04:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.00
- EBI: Benign (in allele DQB1*04:01)
- UniProt: Benign (in allele DQB1*04:01)
- Most common in the HGDP:NAXI population (allele frequency 0.21)
- Structural context available
- Literature evidence available