K83R (p.Lys83Arg) variant of HMGCS2 (P54868)
K83R (p.Lys83Arg) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K83R (p.Lys83Arg) variant details
- p.Lys83Arg
- gnomAD rs1462212320
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.53
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available