A24A (p.Ala24Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A24A (p.Ala24Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- rs2126610379
- gnomAD 5-119456328-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 9.43
- Population evidence available
- Structural context available
- Literature evidence available