C31R (p.Cys31Arg) variant of SMAD3 (SMAD family member 3)
C31R (p.Cys31Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- rs1960684911
- gnomAD 15-67098946-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.65
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available