T60S (p.Thr60Ser) variant of HLA-DQB1 (P01920)
T60S (p.Thr60Ser) 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*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- rs9274405
- cosmic curated COSV66569
- UniProt VAR 062696
- 1000Genomes rs9274405
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Missense
- Variant Prioritization Score for Impact Estimate 0.0773
- REVEL 0.08
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.63
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- Most common in the HGDP:UYGUR population (allele frequency 0.1)
- Structural context available
- Literature evidence available