E53A (p.Glu53Ala) variant of MAPT (P10636)
E53A (p.Glu53Ala) in MAPT (P10636) is a missense 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.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- gnomAD 17-45971883-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.11
- CADD 22.40
- PolyPhen-2 0.63
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available