Q99R (p.Gln99Arg) variant of HMGCS2 (P54868)
Q99R (p.Gln99Arg) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q99R (p.Gln99Arg) variant details
- p.Gln99Arg
- ExAC rs781647908
- gnomAD rs781647908
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available