I20V (p.Ile20Val) variant of SYK (Tyrosine-protein kinase SYK)
I20V (p.Ile20Val) in SYK (Tyrosine-protein kinase SYK) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- ExAC rs774928285
- TOPMed rs774928285
- gnomAD rs774928285
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available