T18I (p.Thr18Ile) variant of PICALM (Q13492)
T18I (p.Thr18Ile) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- gnomAD rs1253473238
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available