G14D (p.Gly14Asp) variant of CACNA1B (Q00975)
G14D (p.Gly14Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 9-137877974-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.50
- MetaLR 0.85
- MetaSVM 0.76
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available