P31T (p.Pro31Thr) variant of CACNA1E (Q15878)
P31T (p.Pro31Thr) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- rs1658003584
- gnomAD 1-181413270-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 22.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available