L44V (p.Leu44Val) variant of WAS (P42768)
L44V (p.Leu44Val) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of WAS-related disorder; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs200530781
- ClinGen CA329099999
- ClinVar RCV003392830
- ClinVar RCV003778288
- Uncertain significance
- WAS-related disorder; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.40
- CADD 18.50
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (WAS-related disorder; not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.007)
- 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)