P58T (p.Pro58Thr) variant of DOCK8 (Q8NF50)
P58T (p.Pro58Thr) in DOCK8 (Q8NF50) is a missense change. 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.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- ExAC rs777118726
- gnomAD rs777118726
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.10
- CADD 19.50
- PolyPhen-2 0.13
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available