L43P (p.Leu43Pro) variant of MAPT (P10636)
L43P (p.Leu43Pro) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 17-45962465-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available