C5Y (p.Cys5Tyr) variant of CALCRL (Q16602)
C5Y (p.Cys5Tyr) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- 1000Genomes rs201472047
- ExAC rs201472047
- TOPMed rs201472047
- gnomAD rs201472047
- Missense
- Variant Prioritization Score for Impact Estimate 0.0569
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available