K13R (p.Lys13Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
K13R (p.Lys13Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs41294988
- ClinGen CA072266
- ClinVar RCV000458284
- ClinVar RCV000679240
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.46
- MetaLR 0.59
- MetaSVM 0.19
- CADD 26.80
- PolyPhen-2 0.58
- SIFT 0.10
- EBI: Likely benign (in dbSNP:rs41294988)
- UniProt: Likely benign (in dbSNP:rs41294988)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)