T7M (p.Thr7Met) variant of PICALM (Q13492)
T7M (p.Thr7Met) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- ExAC rs751824714
- gnomAD rs751824714
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- CADD 25.00
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available