P43R (p.Pro43Arg) variant of CACNA1D (Q01668)
P43R (p.Pro43Arg) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- 1000Genomes rs758415159
- ExAC rs758415159
- TOPMed rs758415159
- gnomAD rs758415159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.46
- MetaLR 0.82
- MetaSVM 0.74
- CADD 23.70
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available