G130D (p.Gly130Asp) variant of HMGCS2 (P54868)
G130D (p.Gly130Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G130D (p.Gly130Asp) variant details
- p.Gly130Asp
- cosmic curated COSV10102
- ESP rs375313694
- ExAC rs375313694
- TOPMed rs375313694
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.95
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available