P30S (p.Pro30Ser) variant of HMGCS2 (P54868)
P30S (p.Pro30Ser) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- 1000Genomes rs202069145
- ExAC rs202069145
- TOPMed rs202069145
- gnomAD rs202069145
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.12
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available