V23F (p.Val23Phe) variant of ITGB3 (Integrin beta-3)
V23F (p.Val23Phe) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- rs778013385
- ClinGen CA8622839
- ClinVar RCV004405821
- ClinVar RCV004750958
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- MetaLR 0.06
- MetaSVM -0.98
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)