H26L (p.His26Leu) variant of MUTYH (Adenine DNA glycosylase)
H26L (p.His26Leu) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H26L (p.His26Leu) variant details
- p.His26Leu
- rs1645577358
- ClinGen CA340137176
- ClinVar RCV002409896
- gnomAD rs1645577358
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.08
- MetaLR 0.42
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.27
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)