G13R (p.Gly13Arg) variant of CACNA1B (Q00975)
G13R (p.Gly13Arg) 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 and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- gnomAD rs1209272934
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.64
- MetaLR 0.94
- MetaSVM 1.03
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available