P78Q (p.Pro78Gln) variant of SMAD2 (SMAD family member 2)
P78Q (p.Pro78Gln) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P78Q (p.Pro78Gln) variant details
- p.Pro78Gln
- rs761359766
- ClinGen CA8956334
- ClinVar RCV002862156
- ExAC rs761359766
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available