S3S (p.Ser3Ser) variant of AICDA (Q9GZX7)
S3S (p.Ser3Ser) in AICDA (Q9GZX7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- gnomAD 12-8607012-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available