G27S (p.Gly27Ser) variant of CACNA1B (Q00975)
G27S (p.Gly27Ser) in CACNA1B (Q00975) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- cosmic curated COSV10960
- ExAC rs758563303
- gnomAD rs758563303
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.35
- MetaLR 0.59
- MetaSVM -0.42
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available