V20L (p.Val20Leu) variant of SMAD4 (SMAD family member 4)
V20L (p.Val20Leu) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs1568202971
- ClinGen CA402457426
- ClinVar RCV000777148
- Ensembl rs1568202971
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)