S24N (p.Ser24Asn) variant of MUTYH (Adenine DNA glycosylase)
S24N (p.Ser24Asn) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- rs876659143
- ClinGen CA10577751
- ClinVar RCV000216257
- ClinVar RCV000640380
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.26
- PolyPhen-2 0.16
- SIFT 0.00
- MutPred 0.26
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: 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)