S73G (p.Ser73Gly) variant of DDC (P20711)
S73G (p.Ser73Gly) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S73G (p.Ser73Gly) variant details
- p.Ser73Gly
- ExAC rs767470253
- gnomAD rs767470253
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.48
- CADD 27.30
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available