V202I (p.Val202Ile) variant of HLA-DQB1 (P01920)
V202I (p.Val202Ile) 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*03:24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V202I (p.Val202Ile) variant details
- p.Val202Ile
- rs80255621
- cosmic curated COSV99059
- UniProt VAR 062750
- gnomAD rs80255621
- Benign
- in allele DQB1*03:24
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.12
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Benign (in allele DQB1*03:24)
- UniProt: Benign (in allele DQB1*03:24)
- Most common in the REMAINING population (allele frequency 0.0005)
- Structural context available