P43T (p.Pro43Thr) variant of DDC (P20711)
P43T (p.Pro43Thr) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P43T (p.Pro43Thr) variant details
- p.Pro43Thr
- TOPMed rs2044719647
- gnomAD rs2044719647
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.39
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available