N58K (p.Asn58Lys) variant of DDC (P20711)
N58K (p.Asn58Lys) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- 1000Genomes rs200233157
- ExAC rs200233157
- TOPMed rs200233157
- gnomAD rs200233157
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0563
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available