W30R (p.Trp30Arg) variant of SMAD3 (SMAD family member 3)
W30R (p.Trp30Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
W30R (p.Trp30Arg) variant details
- p.Trp30Arg
- gnomAD 15-67066242-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available