S14L (p.Ser14Leu) variant of HLA-A (P04439)
S14L (p.Ser14Leu) in HLA-A (P04439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in allele A*29:02, allele A*31:01, allele A*32:01, allele A*33:01 and allele A*7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- rs2230954
- cosmic curated COSV65136
- ClinVar RCV002306447
- 1000Genomes rs2230954
- no classification for the single variant
- in allele A*29:02, allele A*31:01, allele A*32:01, allele A*33:01 and allele A*7
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.05
- CADD 5.43
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: no classification for the single variant (in allele A*29:02, allele A*31:01, allele A*32:01, allele A*33:0)
- EBI: Benign (in allele A*29:02, allele A*31:01, allele A*32:01, allele A*33:0)
- UniProt: Benign (in allele A*29:02, allele A*31:01, allele A*32:01, allele A*33:0)
- Most common in the HGDP:KARITIANA population (allele frequency 0.33)
- Structural context available
- Cited in: Unusual HLA-B alleles in two tribes of Brazilian Indians. (PMID 1317015)
- Cited in: Distinctive HLA-A,B antigens of black populations formed by interallelic conversion. (PMID 1431115)