E19D (p.Glu19Asp) variant of CACNA1B (Q00975)
E19D (p.Glu19Asp) in CACNA1B (Q00975) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- 1000Genomes rs191962352
- ExAC rs191962352
- gnomAD rs191962352
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.28
- MetaLR 0.65
- MetaSVM 0.08
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.13
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00058)
- Structural context available