S79I (p.Ser79Ile) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
S79I (p.Ser79Ile) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S79I (p.Ser79Ile) variant details
- p.Ser79Ile
- ExAC rs754725143
- TOPMed rs754725143
- gnomAD rs754725143
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- MetaLR 0.10
- MetaSVM -0.98
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available