P6P (p.Pro6Pro) variant of SMAD3 (SMAD family member 3)
P6P (p.Pro6Pro) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs191495317
- gnomAD 15-67066172-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 12.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available