T69A (p.Thr69Ala) variant of MAPT (P10636)
T69A (p.Thr69Ala) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MAPT-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T69A (p.Thr69Ala) variant details
- p.Thr69Ala
- rs778599496
- ClinGen CA8617547
- ClinVar RCV003399478
- ExAC rs778599496
- Uncertain significance
- MAPT-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.88
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (MAPT-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available