K23N (p.Lys23Asn) variant of VCAN (Versican core protein)
K23N (p.Lys23Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- rs768072971
- ClinGen CA3332364
- ClinVar RCV003035359
- ClinVar RCV005930278
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available