G48D (p.Gly48Asp) variant of PIM1 (P11309)
G48D (p.Gly48Asp) in PIM1 (P11309) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- rs758586647
- NCI-TCGA Cosmic COSV6516
- ExAC rs758586647
- gnomAD rs758586647
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.28
- CADD 28.90
- PolyPhen-2 0.81
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available