S68I (p.Ser68Ile) variant of MAPT (P10636)
S68I (p.Ser68Ile) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S68I (p.Ser68Ile) variant details
- p.Ser68Ile
- gnomAD 17-45978405-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 13.20
- PolyPhen-2 0.43
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available