L30V (p.Leu30Val) variant of DOCK8 (Q8NF50)
L30V (p.Leu30Val) 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.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD rs1245164919
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.04
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available