M7L (p.Met7Leu) variant of CACNA1D (Q01668)
M7L (p.Met7Leu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M7L (p.Met7Leu) variant details
- p.Met7Leu
- gnomAD 3-53495185-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.41
- MetaLR 0.65
- MetaSVM 0.08
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available