E30D (p.Glu30Asp) variant of SPTA1 (P02549)
E30D (p.Glu30Asp) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- TOPMed rs1256377737
- gnomAD rs1256377737
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)