G25V (p.Gly25Val) variant of CACNA1B (Q00975)
G25V (p.Gly25Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- gnomAD 9-137878007-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.47
- MetaLR 0.78
- MetaSVM 0.27
- CADD 22.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available