T71R (p.Thr71Arg) variant of MAPT (P10636)
T71R (p.Thr71Arg) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T71R (p.Thr71Arg) variant details
- p.Thr71Arg
- ExAC rs747643127
- gnomAD rs747643127
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.99
- CADD 24.30
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available