P42L (p.Pro42Leu) variant of PIM1 (P11309)
P42L (p.Pro42Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- NCI-TCGA Cosmic COSV1009
- ExAC rs766108688
- gnomAD rs766108688
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available