P6S (p.Pro6Ser) variant of SMAD2 (SMAD family member 2)
P6S (p.Pro6Ser) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- Ensembl rs1170786282
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.97
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available