P30S (p.Pro30Ser) variant of VCAN (Versican core protein)
P30S (p.Pro30Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs138176813
- ClinGen CA3332386
- ClinVar RCV002622119
- ESP rs138176813
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.08
- CADD 15.80
- PolyPhen-2 0.89
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available