A2T (p.Ala2Thr) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A2T (p.Ala2Thr) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 2-203867946-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- MetaLR 0.10
- MetaSVM -1.03
- CADD 21.00
- PolyPhen-2 0.23
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available