S123T (p.Ser123Thr) variant of HMGCS2 (P54868)
S123T (p.Ser123Thr) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S123T (p.Ser123Thr) variant details
- p.Ser123Thr
- cosmic curated COSV65567
- TOPMed rs1300010645
- gnomAD rs1300010645
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.14
- CADD 7.25
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available