I56V (p.Ile56Val) variant of DDC (P20711)
I56V (p.Ile56Val) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- gnomAD rs1245414893
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.78
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available