T28N (p.Thr28Asn) variant of CACNA1E (Q15878)
T28N (p.Thr28Asn) in CACNA1E (Q15878) 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 0.48 / 1. The record also includes population frequency data and structural context.
T28N (p.Thr28Asn) variant details
- p.Thr28Asn
- TOPMed rs1405275408
- gnomAD rs1405275408
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.32
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available