I57F (p.Ile57Phe) variant of CACNA1S (Q13698)
I57F (p.Ile57Phe) in CACNA1S (Q13698) 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 0.73 / 1. The record also includes population frequency data and structural context.
I57F (p.Ile57Phe) variant details
- p.Ile57Phe
- Ensembl rs1663048287
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.85
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available