P12S (p.Pro12Ser) variant of CACNA1E (Q15878)
P12S (p.Pro12Ser) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available