K5N (p.Lys5Asn) variant of MSH3 (DNA mismatch repair protein Msh3)
K5N (p.Lys5Asn) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs563338833
- ClinGen CA3327418
- ClinVar RCV000796995
- ClinVar RCV002397593
- Uncertain significance
- Endometrial carcinoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Endometrial carcinoma; not provided; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.8e-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)