P25A (p.Pro25Ala) variant of HMGCS2 (P54868)
P25A (p.Pro25Ala) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- rs144744634
- ClinGen CA312636
- ClinVar RCV000185971
- ClinVar RCV000647361
- Conflicting interpretations
- not specified; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.13
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; 3-hydroxy-3-methylglutaryl-CoA synthase deficienc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available