A72G (p.Ala72Gly) variant of MAPT (P10636)
A72G (p.Ala72Gly) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A72G (p.Ala72Gly) variant details
- p.Ala72Gly
- rs886053030
- gnomAD 17-45978375-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- AlphaMissense 0.19
- MetaLR 0.16
- MetaSVM -0.97
- CADD 26.00
- PolyPhen-2 1.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available