L28F (p.Leu28Phe) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
L28F (p.Leu28Phe) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs606231418
- gnomAD 2-203868016-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 13.20
- Population evidence available
- Structural context available
- Cited in: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. (PMID 25213377)