D45E (p.Asp45Glu) variant of CALCA (P06881)
D45E (p.Asp45Glu) in CALCA (P06881) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- ESP rs138328117
- ExAC rs138328117
- TOPMed rs138328117
- gnomAD rs138328117
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.02
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.6e-05)