L4V (p.Leu4Val) variant of DOCK8 (Q8NF50)
L4V (p.Leu4Val) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD rs1237906578
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.06
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available