D74A (p.Asp74Ala) variant of MAPT (P10636)
D74A (p.Asp74Ala) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D74A (p.Asp74Ala) variant details
- p.Asp74Ala
- gnomAD 17-45974385-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.18
- CADD 33.00
- SIFT 0.08
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available