P10Q (p.Pro10Gln) variant of SMAD3 (SMAD family member 3)
P10Q (p.Pro10Gln) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- gnomAD 15-67066183-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available