V30I (p.Val30Ile) variant of SYK (Tyrosine-protein kinase SYK)
V30I (p.Val30Ile) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- gnomAD 9-90843986-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available