G10S (p.Gly10Ser) variant of CACNA1B (Q00975)
G10S (p.Gly10Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- gnomAD 9-137877961-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.19
- MetaLR 0.71
- MetaSVM 0.02
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available
- Literature evidence available