L2F (p.Leu2Phe) variant of PIM1 (P11309)
L2F (p.Leu2Phe) 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 0.41 / 1. The record also includes population frequency data and structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- rs774518045
- NCI-TCGA Cosmic COSV6516
- ExAC rs774518045
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.23
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available