G31S (p.Gly31Ser) variant of CACNA1B (Q00975)
G31S (p.Gly31Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- Ensembl rs1956857890
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.21
- MetaLR 0.72
- MetaSVM 0.10
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available