A44V (p.Ala44Val) variant of DDC (P20711)
A44V (p.Ala44Val) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- cosmic curated COSV10591
- TOPMed rs2044719145
- gnomAD rs2044719145
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.07
- CADD 8.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available