V110M (p.Val110Met) variant of HMGCS2 (P54868)
V110M (p.Val110Met) in HMGCS2 (P54868) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V110M (p.Val110Met) variant details
- p.Val110Met
- rs1250760247
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- TOPMed rs1250760247
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available