P4S (p.Pro4Ser) variant of ITGB4 (Integrin beta-4)
P4S (p.Pro4Ser) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Junctional epidermolysis bullosa with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs567076241
- ClinGen CA8768511
- ClinVar RCV002508494
- ClinVar RCV005019221
- Uncertain significance
- Inborn genetic diseases; Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Junctional epidermolysis bullosa with p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)