S68R (p.Ser68Arg) variant of MAPT (P10636)
S68R (p.Ser68Arg) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S68R (p.Ser68Arg) variant details
- p.Ser68Arg
- gnomAD 17-45978404-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.04
- CADD 24.20
- PolyPhen-2 0.39
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available