V168I (p.Val168Ile) variant of PICALM (Q13492)
V168I (p.Val168Ile) in PICALM (Q13492) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V168I (p.Val168Ile) variant details
- p.Val168Ile
- ExAC rs757198200
- TOPMed rs757198200
- gnomAD rs757198200
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.03
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available