T25K (p.Thr25Lys) variant of ACADVL (P49748)
T25K (p.Thr25Lys) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T25K (p.Thr25Lys) variant details
- p.Thr25Lys
- rs1178274476
- gnomAD 17-7217801-GACAGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 21.80
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available