A2V (p.Ala2Val) variant of SYK (Tyrosine-protein kinase SYK)
A2V (p.Ala2Val) in SYK (Tyrosine-protein kinase SYK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- cosmic curated COSV10748
- Ensembl rs2118627787
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.09
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available