M24I (p.Met24Ile) variant of HLA-DQB1 (P01920)
M24I (p.Met24Ile) 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*05:01 and allele DQB1*05:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M24I (p.Met24Ile) variant details
- p.Met24Ile
- rs1049059
- cosmic curated COSV66571
- UniProt VAR 062682
- 1000Genomes rs1049059
- Benign
- in allele DQB1*05:01 and allele DQB1*05:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.09
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Benign (in allele DQB1*05:01 and allele DQB1*05:02)
- UniProt: Benign (in allele DQB1*05:01 and allele DQB1*05:02)
- Population evidence available
- Structural context available
- Literature evidence available