G9S (p.Gly9Ser) variant of CACNA1B (Q00975)
G9S (p.Gly9Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- gnomAD 9-137877958-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.27
- MetaLR 0.55
- MetaSVM -0.29
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available