L87P (p.Leu87Pro) variant of SMAD2 (SMAD family member 2)
L87P (p.Leu87Pro) 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 0.69 / 1. The record also includes population frequency data and structural context.
L87P (p.Leu87Pro) variant details
- p.Leu87Pro
- cosmic curated COSV50993
- ExAC rs779006352
- TOPMed rs779006352
- gnomAD rs779006352
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.73
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.59
- CADD 25.00
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available