H21H (p.His21His) variant of SMAD4 (SMAD family member 4)
H21H (p.His21His) in SMAD4 (SMAD family member 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H21H (p.His21His) variant details
- p.His21His
- rs1555685004
- gnomAD 18-51047109-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available