A18T (p.Ala18Thr) variant of DDC (P20711)
A18T (p.Ala18Thr) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD rs1351341672
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.41
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available