L10I (p.Leu10Ile) variant of HLA-C (P10321)
L10I (p.Leu10Ile) in HLA-C (P10321) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele C*01:02, allele C*03:02, allele C*03:04, allele C*04:01, allele C*05:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- rs2308527
- cosmic curated COSV66117
- UniProt VAR 082410
- 1000Genomes rs2308527
- Benign
- in allele C*01:02, allele C*03:02, allele C*03:04, allele C*04:01, allele C*05:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.11
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign (in allele C*01:02, allele C*03:02, allele C*03:04, allele C*04:0)
- UniProt: Benign (in allele C*01:02, allele C*03:02, allele C*03:04, allele C*04:0)
- Most common in the HGDP:UYGUR population (allele frequency 1)
- Structural context available
- Cited in: Correction of HLA-Cw*0501 and identification of HLA-Cw*0711. (PMID 10372547)
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)