P12P (p.Pro12Pro) variant of CACNA1E (Q15878)
P12P (p.Pro12Pro) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- rs1162824139
- gnomAD 1-181413155-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 4.36
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available