A53V (p.Ala53Val) variant of CD28 (P10747)
A53V (p.Ala53Val) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- gnomAD 2-203726738-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.22
- MetaLR 0.18
- MetaSVM -0.86
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available