P20L (p.Pro20Leu) variant of WWOX (Q9NZC7)
P20L (p.Pro20Leu) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 1; Autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs761638116
- ClinGen CA284502483
- ClinVar RCV001053713
- ClinVar RCV002481980
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 1; Autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 27.80
- PolyPhen-2 0.84
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 1; Aut)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)