S4I (p.Ser4Ile) variant of DDC (P20711)
S4I (p.Ser4Ile) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- ExAC rs769697130
- TOPMed rs769697130
- gnomAD rs769697130
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.14
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available