T18A (p.Thr18Ala) variant of PICALM (Q13492)
T18A (p.Thr18Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD rs2096483643
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available