S24L (p.Ser24Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
S24L (p.Ser24Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs786201684
- ClinGen CA016332
- cosmic curated COSV52285
- ClinVar RCV000164092
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.13
- MetaLR 0.36
- MetaSVM -0.53
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)