S49* (p.Ser49Ter) variant of MUTYH (Adenine DNA glycosylase)
S49* (p.Ser49Ter) in MUTYH (Adenine DNA glycosylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S49* (p.Ser49Ter) variant details
- p.Ser49Ter
- rs754364718
- gnomAD 1-45329401-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.247
- AlphaMissense 0.09
- MetaLR 0.20
- MetaSVM -0.84
- CADD 3.52
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available