S128G (p.Ser128Gly) variant of PICALM (Q13492)
S128G (p.Ser128Gly) 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.
S128G (p.Ser128Gly) variant details
- p.Ser128Gly
- TOPMed rs2095580388
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.36
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available