R26G (p.Arg26Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
R26G (p.Arg26Gly) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs757622849
- ClinGen CA16611071
- ClinVar RCV000468207
- ClinVar RCV000564743
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.84
- CADD 9.14
- PolyPhen-2 0.01
- SIFT 0.42
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 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)