P39Q (p.Pro39Gln) variant of CACNA1D (Q01668)
P39Q (p.Pro39Gln) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P39Q (p.Pro39Gln) variant details
- p.Pro39Gln
- gnomAD 3-53497200-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.43
- MetaLR 0.88
- MetaSVM 0.81
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available