N94K (p.Asn94Lys) variant of HLA-DQB1 (P01920)
N94K (p.Asn94Lys) 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*06:37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N94K (p.Asn94Lys) variant details
- p.Asn94Lys
- rs1130382
- UniProt VAR 062717
- 1000Genomes rs1130382
- ExAC rs1130382
- Benign
- in allele DQB1*06:37
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.25
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in allele DQB1*06:37)
- UniProt: Benign (in allele DQB1*06:37)
- Most common in the REMAINING population (allele frequency 3.9e-05)
- Structural context available