D6E (p.Asp6Glu) variant of CACNA1B (Q00975)
D6E (p.Asp6Glu) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- rs757235316
- ClinGen CA375794246
- ClinVar RCV003440848
- 1000Genomes rs757235316
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.39
- MetaLR 0.68
- MetaSVM 0.04
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available