K15M (p.Lys15Met) variant of DOCK8 (Q8NF50)
K15M (p.Lys15Met) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K15M (p.Lys15Met) variant details
- p.Lys15Met
- gnomAD 9-215020-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.91
- MetaLR 0.07
- MetaSVM -1.01
- CADD 27.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available