S14F (p.Ser14Phe) variant of MSH6 (DNA mismatch repair protein Msh6)
S14F (p.Ser14Phe) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs863224628
- ClinGen CA336718
- ClinVar RCV000196789
- ClinVar RCV000575547
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.47
- MetaLR 0.53
- MetaSVM 0.18
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.22
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)