W23R (p.Trp23Arg) variant of HLA-A (P04439)
W23R (p.Trp23Arg) 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*74:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
W23R (p.Trp23Arg) variant details
- p.Trp23Arg
- 1000Genomes rs41564012
- ESP rs41564012
- ExAC rs41564012
- gnomAD rs41564012
- Benign
- in allele A*74:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.09
- CADD 10.50
- PolyPhen-2 1.00
- SIFT 0.52
- EBI: Benign (in allele A*74:01)
- UniProt: Benign (in allele A*74:01)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Distinctive HLA-A,B antigens of black populations formed by interallelic conversion. (PMID 1431115)