S24W (p.Ser24Trp) variant of MSH6 (DNA mismatch repair protein Msh6)
S24W (p.Ser24Trp) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S24W (p.Ser24Trp) variant details
- p.Ser24Trp
- rs786201684
- ClinGen CA346734786
- ClinVar RCV003819525
- gnomAD rs786201684
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.21
- CADD 18.50
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available