T76R (p.Thr76Arg) variant of MAPT (P10636)
T76R (p.Thr76Arg) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T76R (p.Thr76Arg) variant details
- p.Thr76Arg
- gnomAD 17-45974391-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 26.30
- SIFT 0.02
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available