N214S (p.Asn214Ser) variant of HLA-DQB1 (P01920)
N214S (p.Asn214Ser) 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*02:04, allele DQB1*05:01, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N214S (p.Asn214Ser) variant details
- p.Asn214Ser
- rs1130398
- cosmic curated COSV66572
- UniProt VAR 062751
- 1000Genomes rs1130398
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*05:01, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.51
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, alle)
- Population evidence available
- Structural context available