G16S (p.Gly16Ser) variant of CACNA1B (Q00975)
G16S (p.Gly16Ser) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- gnomAD rs1486490870
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.39
- MetaLR 0.73
- MetaSVM 0.52
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available