N57T (p.Asn57Thr) variant of VCAN (Versican core protein)
N57T (p.Asn57Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
N57T (p.Asn57Thr) variant details
- p.Asn57Thr
- rs2478963803
- ClinGen CA360295087
- ClinVar RCV003716272
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.03
- CADD 21.50
- PolyPhen-2 0.24
- 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