T50I (p.Thr50Ile) variant of MAPT (P10636)
T50I (p.Thr50Ile) 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.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- gnomAD 17-45971874-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.10
- CADD 12.00
- PolyPhen-2 0.10
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available