V168G (p.Val168Gly) variant of PICALM (Q13492)
V168G (p.Val168Gly) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V168G (p.Val168Gly) variant details
- p.Val168Gly
- TOPMed rs2095455998
- gnomAD rs2095455998
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available