A7S (p.Ala7Ser) variant of SYK (Tyrosine-protein kinase SYK)
A7S (p.Ala7Ser) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 9-90843917-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available