A5P (p.Ala5Pro) variant of ACAT1 (P24752)
A5P (p.Ala5Pro) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- rs3741056
- ClinGen CA145604
- cosmic curated COSV54919
- ClinVar RCV000077929
- Benign
- not specified; not provided; Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.28
- CADD 16.00
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Benign (not specified; not provided; Deficiency of acetyl-CoA acetyltran)
- EBI: Benign (in dbSNP:rs3741056)
- UniProt: Benign (in dbSNP:rs3741056)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)