P56S (p.Pro56Ser) variant of CALCRL (Q16602)
P56S (p.Pro56Ser) in CALCRL (Q16602) is a missense change. 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.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- 1000Genomes rs202148636
- ExAC rs202148636
- TOPMed rs202148636
- gnomAD rs202148636
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available