P10L (p.Pro10Leu) variant of SMAD4 (SMAD family member 4)
P10L (p.Pro10Leu) 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 not provided; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs1909566256
- ClinGen CA402457286
- cosmic curated COSV10465
- ClinVar RCV001224928
- Uncertain significance
- not provided; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.68
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (not provided; Juvenile polyposis syndrome)
- 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)