Y13H (p.Tyr13His) variant of AICDA (Q9GZX7)
Y13H (p.Tyr13His) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y13H (p.Tyr13His) variant details
- p.Tyr13His
- gnomAD 12-8606984-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.58
- MetaLR 0.42
- MetaSVM -0.24
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available