N25S (p.Asn25Ser) variant of CACNA1D (Q01668)
N25S (p.Asn25Ser) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- rs1415040812
- ClinGen CA353381686
- ClinVar RCV001449707
- ClinVar RCV005308460
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.29
- MetaLR 0.78
- MetaSVM 0.05
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)