G25R (p.Gly25Arg) variant of SMAD3 (SMAD family member 3)
G25R (p.Gly25Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD rs1231386919
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.36
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available