Y46H (p.Tyr46His) variant of CALCRL (Q16602)
Y46H (p.Tyr46His) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y46H (p.Tyr46His) variant details
- p.Tyr46His
- TOPMed rs995545514
- gnomAD rs995545514
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available