P53L (p.Pro53Leu) variant of DOCK8 (Q8NF50)
P53L (p.Pro53Leu) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- ExAC rs777781052
- TOPMed rs777781052
- gnomAD rs777781052
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available