S30C (p.Ser30Cys) variant of CALCA (P06881)
S30C (p.Ser30Cys) in CALCA (P06881) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- ESP rs369544248
- ExAC rs369544248
- TOPMed rs369544248
- gnomAD rs369544248
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.16
- CADD 22.00
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)