F8L (p.Phe8Leu) variant of MAPT (P10636)
F8L (p.Phe8Leu) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- gnomAD 17-45962361-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -1.05
- CADD 18.60
- PolyPhen-2 0.80
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available