P43S (p.Pro43Ser) variant of CACNA1D (Q01668)
P43S (p.Pro43Ser) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- rs2107069325
- ClinGen CA353381799
- NCI-TCGA Cosmic COSV5544
- cosmic curated COSV55443
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.22
- MetaLR 0.66
- MetaSVM -0.10
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)