P30A (p.Pro30Ala) variant of HMGCS2 (P54868)
P30A (p.Pro30Ala) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs202069145
- ClinGen CA1037984
- ClinVar RCV000381823
- ClinVar RCV002519380
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)