V168L (p.Val168Leu) variant of PICALM (Q13492)
V168L (p.Val168Leu) in PICALM (Q13492) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data and structural context.
V168L (p.Val168Leu) variant details
- p.Val168Leu
- ExAC rs757198200
- TOPMed rs757198200
- gnomAD rs757198200
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available