S24R (p.Ser24Arg) variant of MUTYH (Adenine DNA glycosylase)
S24R (p.Ser24Arg) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- rs1570466003
- ClinGen CA340137186
- ClinVar RCV000824636
- ClinVar RCV005672498
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)