P43L (p.Pro43Leu) variant of CACNA1D (Q01668)
P43L (p.Pro43Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs758415159
- ClinGen CA2453626
- ClinVar RCV003834506
- ClinVar RCV005537712
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.41
- MetaLR 0.77
- MetaSVM 0.59
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)