V14M (p.Val14Met) variant of DDC (P20711)
V14M (p.Val14Met) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- ExAC rs746900309
- gnomAD rs746900309
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available