V29L (p.Val29Leu) variant of HLA-DQB1 (P01920)
V29L (p.Val29Leu) 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*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- rs1130366
- cosmic curated COSV66569
- UniProt VAR 062687
- 1000Genomes rs1130366
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and a)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and a)
- Structural context available
- Literature evidence available