T30A (p.Thr30Ala) variant of MAPT (P10636)
T30A (p.Thr30Ala) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- rs748728879
- UniProt VAR 064623
- ExAC rs748728879
- TOPMed rs748728879
- Missense
- Variant Prioritization Score for Impact Estimate 0.0867
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.07
- CADD 5.53
- PolyPhen-2 0.42
- SIFT 0.67
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A thorough assessment of benign genetic variability in GRN and MAPT. (PMID 20020531)