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 Juvenile polyposis syndrome; not provided; Juvenile polyposis/hereditary hemorrh. The record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1064795777
- ClinGen CA16620697
- ClinVar RCV000481044
- ClinVar RCV001865469
- Uncertain significance
- Juvenile polyposis syndrome; not provided; Juvenile polyposis/hereditary hemorrh
- Missense
- MetaLR 0.80
- MetaSVM 0.24
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; not provided; Juvenile polyposis/he)
- 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)