T72I (p.Thr72Ile) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
T72I (p.Thr72Ile) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T72I (p.Thr72Ile) variant details
- p.Thr72Ile
- ExAC rs781579729
- gnomAD rs781579729
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.43
- MetaSVM -0.36
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available