T39M (p.Thr39Met) variant of MAPT (P10636)
T39M (p.Thr39Met) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T39M (p.Thr39Met) variant details
- p.Thr39Met
- ExAC rs372017279
- TOPMed rs372017279
- gnomAD rs372017279
- Missense
- Variant Prioritization Score for Impact Estimate 0.0839
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.08
- CADD 5.47
- PolyPhen-2 0.44
- SIFT 0.74
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available