E73A (p.Glu73Ala) variant of MAPT (P10636)
E73A (p.Glu73Ala) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E73A (p.Glu73Ala) variant details
- p.Glu73Ala
- rs745928592
- gnomAD 17-45978378-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.93
- CADD 28.00
- PolyPhen-2 0.33
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available