R8K (p.Arg8Lys) variant of DDC (P20711)
R8K (p.Arg8Lys) in DDC (P20711) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- TOPMed rs1409597241
- gnomAD rs1409597241
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- CADD 8.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available