V218A (p.Val218Ala) variant of HLA-DQB1 (P01920)
V218A (p.Val218Ala) 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*06:36. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V218A (p.Val218Ala) variant details
- p.Val218Ala
- rs281864132
- UniProt VAR 062753
- gnomAD rs281864132
- Benign
- in allele DQB1*06:36
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.18
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.01
- EBI: Benign (in allele DQB1*06:36)
- UniProt: Benign (in allele DQB1*06:36)
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available