P43L (p.Pro43Leu) variant of HMGCS2 (P54868)
P43L (p.Pro43Leu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- ExAC rs771019602
- gnomAD rs771019602
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available