H12L (p.His12Leu) variant of CACNA1D (Q01668)
H12L (p.His12Leu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H12L (p.His12Leu) variant details
- p.His12Leu
- gnomAD 3-53495201-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.26
- MetaLR 0.70
- MetaSVM 0.05
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available