P6L (p.Pro6Leu) variant of SMAD3 (SMAD family member 3)
P6L (p.Pro6Leu) in SMAD3 (SMAD family member 3) 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 0.71 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs863223749
- ClinGen CA321625
- ClinVar RCV000197181
- gnomAD rs863223749
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.77
- CADD 23.80
- PolyPhen-2 0.69
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available