A5P (p.Ala5Pro) variant of HLA-A (P04439)
A5P (p.Ala5Pro) 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*80:01. 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.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- cosmic curated COSV99060
- 1000Genomes rs41541913
- ESP rs41541913
- ExAC rs41541913
- Benign
- in allele A*80:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.27
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign (in allele A*80:01)
- UniProt: Benign (in allele A*80:01)
- Most common in the 1KG:ESN population (allele frequency 0.024)
- Structural context available
- Cited in: HLA class I signal peptide polymorphism determines the level of CD94/NKG2-HLA-E-mediated regulation of effector cell… (PMID 37264229)
- Cited in: Characterization of a new and highly distinguishable HLA-A allele in a Spanish family. (PMID 8188325)