P7S (p.Pro7Ser) variant of ITGB3 (Integrin beta-3)
P7S (p.Pro7Ser) 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; Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs995924582
- ClinGen CA291240262
- ClinVar RCV001127480
- ClinVar RCV005582545
- Uncertain significance
- Inborn genetic diseases; Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- MetaLR 0.04
- MetaSVM -1.06
- CADD 1.53
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases; Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)