S24C (p.Ser24Cys) variant of MUTYH (Adenine DNA glycosylase)
S24C (p.Ser24Cys) 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 0.47 / 1. The record also includes published literature and structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- rs386833408
- ClinGen CA340137192
- ClinVar RCV003614430
- ClinVar RCV005675259
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.06
- MetaLR 0.62
- MetaSVM 0.01
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)