A10S (p.Ala10Ser) variant of CACNA1E (Q15878)
A10S (p.Ala10Ser) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- rs751662861
- ClinGen CA1274811
- ClinVar RCV002160299
- ClinVar RCV006357329
- Benign/Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.27
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.41
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00027)
- 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)