P50S (p.Pro50Ser) variant of VCAN (Versican core protein)
P50S (p.Pro50Ser) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- gnomAD 5-83490175-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.19
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available