K29R (p.Lys29Arg) variant of SMAD3 (SMAD family member 3)
K29R (p.Lys29Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- ExAC rs777440658
- gnomAD rs777440658
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.67
- CADD 28.70
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available