D37E (p.Asp37Glu) variant of APOA5 (Apolipoprotein A-V)
D37E (p.Asp37Glu) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- rs34282181
- ClinGen CA6289156
- cosmic curated COSV99068
- ClinVar RCV000586242
- Benign/Likely benign
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.17
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not provided)
- EBI: Benign (in dbSNP:rs34282181)
- UniProt: Benign (in dbSNP:rs34282181)
- Most common in the HGDP:YORUBA population (allele frequency 0.095)
- Structural context available