M1V (p.Met1Val) variant of SMAD4 (SMAD family member 4)
M1V (p.Met1Val) 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 SMAD4-related disorder; Juvenile polyposis syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1064795777
- ClinGen CA16620697
- ClinVar RCV000481044
- ClinVar RCV001865469
- Uncertain significance
- SMAD4-related disorder; Juvenile polyposis syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.80
- MetaSVM 0.24
- CADD 20.80
- ClinVar: Uncertain significance (SMAD4-related disorder; Juvenile polyposis syndrome; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)