Y92N (p.Tyr92Asn) variant of HLA-DQB1 (P01920)
Y92N (p.Tyr92Asn) 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*06:16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Y92N (p.Tyr92Asn) variant details
- p.Tyr92Asn
- rs41562414
- UniProt VAR 062716
- ExAC rs41562414
- gnomAD rs41562414
- Benign
- in allele DQB1*06:16
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.18
- CADD 10.70
- PolyPhen-2 0.03
- SIFT 0.11
- EBI: Benign (in allele DQB1*06:16)
- UniProt: Benign (in allele DQB1*06:16)
- Most common in the REMAINING population (allele frequency 9.6e-05)
- Structural context available