G15S (p.Gly15Ser) variant of CACNA1E (Q15878)
G15S (p.Gly15Ser) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs376471584
- ClinGen CA34178243
- cosmic curated COSV62389
- ClinVar RCV001913076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available