P10R (p.Pro10Arg) variant of SMAD3 (SMAD family member 3)
P10R (p.Pro10Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- gnomAD 15-67066183-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.80
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available