V3I (p.Val3Ile) variant of HLA-A (P04439)
V3I (p.Val3Ile) in HLA-A (P04439) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele A*34:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V3I (p.Val3Ile) variant details
- p.Val3Ile
- 1000Genomes rs41541013
- ExAC rs41541013
- gnomAD rs41541013
- UniProt VAR 082315
- Benign
- in allele A*34:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- CADD 8.03
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Benign (in allele A*34:01)
- UniProt: Benign (in allele A*34:01)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.14)
- Structural context available
- Cited in: Distinctive HLA-A,B antigens of black populations formed by interallelic conversion. (PMID 1431115)