R23G (p.Arg23Gly) variant of MAPT (P10636)
R23G (p.Arg23Gly) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- gnomAD 17-45962404-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -1.02
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available