S33G (p.Ser33Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
S33G (p.Ser33Gly) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Endometrial carcinoma; not provided; Familial adenomatous polyposis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S33G (p.Ser33Gly) variant details
- p.Ser33Gly
- rs772142059
- ClinGen CA360265291
- ClinVar RCV001067465
- ClinVar RCV002379603
- Uncertain significance
- Endometrial carcinoma; not provided; Familial adenomatous polyposis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Endometrial carcinoma; not provided; Familial adenomatous polypo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)