E57G (p.Glu57Gly) variant of ANKRD1 (Q15327)
E57G (p.Glu57Gly) in ANKRD1 (Q15327) 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 and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- gnomAD rs1342422889
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available