V45A (p.Val45Ala) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
V45A (p.Val45Ala) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs767995794
- gnomAD 2-203870601-AGCCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 29.90
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available