N3S (p.Asn3Ser) variant of DCC (Netrin receptor DCC)
N3S (p.Asn3Ser) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of DCC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- rs117282798
- ClinGen CA8966437
- ClinVar RCV003979819
- 1000Genomes rs117282798
- Likely benign
- DCC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.17
- ClinVar: Likely benign (DCC-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.03)
- Structural context available