S7N (p.Ser7Asn) variant of VCAN (Versican core protein)
S7N (p.Ser7Asn) in VCAN (Versican core protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- NCI-TCGA Cosmic COSV5410
- gnomAD rs1744685152
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available