L48V (p.Leu48Val) variant of MAPT (P10636)
L48V (p.Leu48Val) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- ExAC rs762046989
- TOPMed rs762046989
- gnomAD rs762046989
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.14
- MetaLR 0.12
- MetaSVM -1.09
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available