I77K (p.Ile77Lys) variant of SMAD2 (SMAD family member 2)
I77K (p.Ile77Lys) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I77K (p.Ile77Lys) variant details
- p.Ile77Lys
- gnomAD rs1326742866
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.96
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available