D74D (p.Asp74Asp) variant of MAPT (P10636)
D74D (p.Asp74Asp) in MAPT (P10636) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D74D (p.Asp74Asp) variant details
- p.Asp74Asp
- rs1193595831
- gnomAD 17-45974386-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.80
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available