A38T (p.Ala38Thr) variant of CACNA1E (Q15878)
A38T (p.Ala38Thr) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs1299132420
- ClinGen CA343844364
- NCI-TCGA Cosmic COSV6238
- cosmic curated COSV62383
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.34
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)