G25R (p.Gly25Arg) variant of CACNA1B (Q00975)
G25R (p.Gly25Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD 9-137878006-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.53
- MetaLR 0.83
- MetaSVM 0.62
- CADD 24.10
- PolyPhen-2 0.46
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available