L28P (p.Leu28Pro) variant of HMGCS2 (P54868)
L28P (p.Leu28Pro) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD rs1653322600
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.46
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available