Q30H (p.Gln30His) variant of ABL1 (Tyrosine-protein kinase ABL1)
Q30H (p.Gln30His) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- gnomAD rs1358531180
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.06
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available