P20R (p.Pro20Arg) variant of WWOX (Q9NZC7)
P20R (p.Pro20Arg) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- rs761638116
- ClinGen CA396841845
- ClinVar RCV001964208
- 1000Genomes rs761638116
- Uncertain significance
- Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available