E44D (p.Glu44Asp) variant of SPTA1 (P02549)
E44D (p.Glu44Asp) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- ESP rs377396196
- ExAC rs377396196
- TOPMed rs377396196
- gnomAD rs377396196
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)