S19W (p.Ser19Trp) variant of CACNA1E (Q15878)
S19W (p.Ser19Trp) 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 0.63 / 1. The record also includes population frequency data and structural context.
S19W (p.Ser19Trp) variant details
- p.Ser19Trp
- rs758128368
- ClinGen CA343844246
- ClinVar RCV001767099
- ExAC rs758128368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available