L51R (p.Leu51Arg) variant of CACNA1D (Q01668)
L51R (p.Leu51Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L51R (p.Leu51Arg) variant details
- p.Leu51Arg
- gnomAD 3-53497236-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.73
- MetaLR 0.90
- MetaSVM 1.03
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available