T217I (p.Thr217Ile) variant of HLA-DQB1 (P01920)
T217I (p.Thr217Ile) 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*03:02, allele DQB1*03:03, allele DQB1*03:05, allele DQB1*03:19, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T217I (p.Thr217Ile) variant details
- p.Thr217Ile
- rs1130399
- cosmic curated COSV66573
- UniProt VAR 062752
- 1000Genomes rs1130399
- Benign
- in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*03:05, allele DQB1*03:19, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.0763
- REVEL 0.01
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Benign (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*03:05, alle)
- UniProt: Benign (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*03:05, alle)
- Most common in the HGDP:MAYA population (allele frequency 0.79)
- Structural context available