L178F (p.Leu178Phe) variant of PICALM (Q13492)
L178F (p.Leu178Phe) in PICALM (Q13492) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L178F (p.Leu178Phe) variant details
- p.Leu178Phe
- 1000Genomes rs567632388
- ExAC rs567632388
- gnomAD rs567632388
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.68
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available