Y48C (p.Tyr48Cys) variant of AICDA (Q9GZX7)
Y48C (p.Tyr48Cys) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- gnomAD rs1445777535
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- MetaLR 0.26
- MetaSVM -0.63
- CADD 26.00
- PolyPhen-2 0.56
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available