Q49P (p.Gln49Pro) variant of MAPT (P10636)
Q49P (p.Gln49Pro) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q49P (p.Gln49Pro) variant details
- p.Gln49Pro
- gnomAD 17-45971871-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.95
- CADD 23.90
- PolyPhen-2 0.75
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available