G31D (p.Gly31Asp) variant of CACNA1B (Q00975)
G31D (p.Gly31Asp) in CACNA1B (Q00975) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- 1000Genomes rs201253748
- ExAC rs201253748
- gnomAD rs201253748
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.39
- MetaLR 0.76
- MetaSVM 0.04
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available