E22E (p.Glu22Glu) variant of SMAD3 (SMAD family member 3)
E22E (p.Glu22Glu) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs187952791
- gnomAD 15-67066220-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 11.70
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)