R19P (p.Arg19Pro) variant of AICDA (Q9GZX7)
R19P (p.Arg19Pro) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- gnomAD 12-8606965-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.51
- MetaLR 0.38
- MetaSVM -0.54
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available