C25G (p.Cys25Gly) variant of HLA-C (P10321)
C25G (p.Cys25Gly) 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*03:02, allele C*03:04, allele C*04:01 and allele C*17:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C25G (p.Cys25Gly) variant details
- p.Cys25Gly
- rs2074493
- cosmic curated COSV10532
- UniProt VAR 082413
- 1000Genomes rs2074493
- Benign
- in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*17:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.34
- CADD 8.53
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*1)
- UniProt: Benign (in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*1)
- Most common in the HGDP:PIMA population (allele frequency 0.62)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: Unusual HLA-B alleles in two tribes of Brazilian Indians. (PMID 1317015)