V10E (p.Val10Glu) variant of MAPT (P10636)
V10E (p.Val10Glu) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V10E (p.Val10Glu) variant details
- p.Val10Glu
- gnomAD 17-45962366-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -0.95
- CADD 13.90
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available