G10C (p.Gly10Cys) variant of ABL1 (Tyrosine-protein kinase ABL1)
G10C (p.Gly10Cys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 9-130835474-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.61
- MetaLR 0.34
- MetaSVM -0.42
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available