F8Y (p.Phe8Tyr) variant of MAPT (P10636)
F8Y (p.Phe8Tyr) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F8Y (p.Phe8Tyr) variant details
- p.Phe8Tyr
- TOPMed rs1276637062
- gnomAD rs1276637062
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.91
- CADD 20.20
- PolyPhen-2 0.82
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available