S41F (p.Ser41Phe) variant of AICDA (Q9GZX7)
S41F (p.Ser41Phe) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- gnomAD 12-8606899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.34
- MetaLR 0.46
- MetaSVM -0.09
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available