R75L (p.Arg75Leu) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R75L (p.Arg75Leu) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R75L (p.Arg75Leu) variant details
- p.Arg75Leu
- 1000Genomes rs1196646336
- gnomAD rs1196646336
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.39
- MetaSVM -0.39
- CADD 24.80
- PolyPhen-2 0.54
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available