T52I (p.Thr52Ile) variant of MAPT (P10636)
T52I (p.Thr52Ile) in MAPT (P10636) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- NCI-TCGA Cosmic COSV5224
- cosmic curated COSV52248
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.08
- CADD 17.30
- PolyPhen-2 0.65
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available