W121C (p.Trp121Cys) variant of HMGCS2 (P54868)
W121C (p.Trp121Cys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
W121C (p.Trp121Cys) variant details
- p.Trp121Cys
- ExAC rs770521945
- gnomAD rs770521945
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available