Q45H (p.Gln45His) variant of CALCRL (Q16602)
Q45H (p.Gln45His) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- TOPMed rs1028403239
- gnomAD rs1028403239
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.36
- CADD 18.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available