R112Q (p.Arg112Gln) variant of HMGCS2 (P54868)
R112Q (p.Arg112Gln) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R112Q (p.Arg112Gln) variant details
- p.Arg112Gln
- rs145633208
- cosmic curated COSV10102
- ESP rs145633208
- ExAC rs145633208
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.25
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in HMGCS2D)
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available