A72T (p.Ala72Thr) variant of MAPT (P10636)
A72T (p.Ala72Thr) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- gnomAD 17-45971945-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.99
- CADD 36.00
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available