R126S (p.Arg126Ser) variant of HMGCS2 (P54868)
R126S (p.Arg126Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R126S (p.Arg126Ser) variant details
- p.Arg126Ser
- cosmic curated COSV10606
- gnomAD rs1393101212
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.72
- CADD 18.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available