V9M (p.Val9Met) variant of ACAN (Aggrecan core protein)
V9M (p.Val9Met) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. 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.
V9M (p.Val9Met) variant details
- p.Val9Met
- rs776631256
- ClinGen CA7719114
- cosmic curated COSV10441
- ClinVar RCV002734778
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.38
- MetaLR 0.01
- MetaSVM -0.96
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)