M46L (p.Met46Leu) variant of HLA-DQB1 (P01920)
M46L (p.Met46Leu) 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*03:11, allele DQB1*03:26, allele DQB1*05:01, allele DQB1*05:02, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
M46L (p.Met46Leu) variant details
- p.Met46Leu
- rs1130368
- cosmic curated COSV66570
- UniProt VAR 061473
- 1000Genomes rs1130368
- Benign
- in allele DQB1*03:11, allele DQB1*03:26, allele DQB1*05:01, allele DQB1*05:02, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.0458
- REVEL 0.04
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Benign (in allele DQB1*03:11, allele DQB1*03:26, allele DQB1*05:01, alle)
- UniProt: Benign (in allele DQB1*03:11, allele DQB1*03:26, allele DQB1*05:01, alle)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.68)
- Structural context available
- Literature evidence available