L110F (p.Leu110Phe) variant of PICALM (Q13492)
L110F (p.Leu110Phe) in PICALM (Q13492) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L110F (p.Leu110Phe) variant details
- p.Leu110Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.20
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available