G13W (p.Gly13Trp) variant of CACNA1B (Q00975)
G13W (p.Gly13Trp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G13W (p.Gly13Trp) variant details
- p.Gly13Trp
- gnomAD 9-137877970-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.65
- MetaLR 0.95
- MetaSVM 1.05
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available