H22Y (p.His22Tyr) variant of VCAN (Versican core protein)
H22Y (p.His22Tyr) 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 0.25 / 1. The record also includes population frequency data and structural context.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- rs748911990
- ClinGen CA3332363
- ClinVar RCV003055019
- ExAC rs748911990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.13
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available