Q41P (p.Gln41Pro) variant of CACNA1E (Q15878)
Q41P (p.Gln41Pro) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q41P (p.Gln41Pro) variant details
- p.Gln41Pro
- rs773295315
- ClinGen CA1274831
- ClinVar RCV002024698
- ClinVar RCV005535261
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)