D72N (p.Asp72Asn) variant of VCAN (Versican core protein)
D72N (p.Asp72Asn) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- rs766324236
- ClinGen CA3332414
- NCI-TCGA Cosmic COSV5411
- cosmic curated COSV54115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.20
- CADD 27.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available