E45K (p.Glu45Lys) variant of MAPT (P10636)
E45K (p.Glu45Lys) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- cosmic curated COSV10727
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.03
- CADD 33.00
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available