D63T (p.Asp63Thr) variant of APOA5 (Apolipoprotein A-V)
D63T (p.Asp63Thr) in APOA5 (Apolipoprotein A-V) is a protein-truncating change. 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.
D63T (p.Asp63Thr) variant details
- p.Asp63Thr
- rs1271269806
- gnomAD 11-116791042-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available