P5L (p.Pro5Leu) variant of IKBKB (O14920)
P5L (p.Pro5Leu) in IKBKB (O14920) 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; Severe combined immunodeficiency due to I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs201805807
- ClinGen CA175977200
- ClinVar RCV002047082
- ClinVar RCV004631754
- Uncertain significance
- not provided; Inborn genetic diseases; Severe combined immunodeficiency due to I
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.49
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Severe combined immunodef)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)