N57S (p.Asn57Ser) variant of VCAN (Versican core protein)
N57S (p.Asn57Ser) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- gnomAD 5-83490197-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.03
- CADD 19.90
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available