P58L (p.Pro58Leu) variant of DOCK8 (Q8NF50)
P58L (p.Pro58Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- 1000Genomes rs181739250
- ESP rs181739250
- ExAC rs181739250
- TOPMed rs181739250
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -1.01
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available