T52L (p.Thr52Leu) variant of MAPT (P10636)
T52L (p.Thr52Leu) in MAPT (P10636) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T52L (p.Thr52Leu) variant details
- p.Thr52Leu
- gnomAD 17-45971873-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available