P6A (p.Pro6Ala) variant of SMAD2 (SMAD family member 2)
P6A (p.Pro6Ala) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- Ensembl rs1170786282
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- CADD 25.70
- PolyPhen-2 0.51
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available