S64C (p.Ser64Cys) variant of MAPT (P10636)
S64C (p.Ser64Cys) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S64C (p.Ser64Cys) variant details
- p.Ser64Cys
- gnomAD rs1002674939
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.89
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available