F8C (p.Phe8Cys) variant of MAPT (P10636)
F8C (p.Phe8Cys) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F8C (p.Phe8Cys) variant details
- p.Phe8Cys
- gnomAD 17-45962360-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.76
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available