L12P (p.Leu12Pro) variant of HMGCS2 (P54868)
L12P (p.Leu12Pro) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs939049952
- ClinGen CA16603380
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.47
- CADD 22.40
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available