I94T (p.Ile94Thr) variant of PICALM (Q13492)
I94T (p.Ile94Thr) 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.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- TOPMed rs1426848837
- gnomAD rs1426848837
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.84
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available