I80T (p.Ile80Thr) variant of PICALM (Q13492)
I80T (p.Ile80Thr) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- TOPMed rs1431764950
- gnomAD rs1431764950
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.48
- CADD 26.40
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available