G50A (p.Gly50Ala) variant of PIM1 (P11309)
G50A (p.Gly50Ala) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- ExAC rs778032371
- gnomAD rs778032371
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- CADD 28.00
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available