A14V (p.Ala14Val) variant of PIM1 (P11309)
A14V (p.Ala14Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- NCI-TCGA Cosmic COSV1009
- gnomAD rs1762257051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available