S7C (p.Ser7Cys) variant of CALCA (P06881)
S7C (p.Ser7Cys) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S7C (p.Ser7Cys) variant details
- p.Ser7Cys
- ExAC rs781962903
- TOPMed rs781962903
- gnomAD rs781962903
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)