P48A (p.Pro48Ala) variant of MUTYH (Adenine DNA glycosylase)
P48A (p.Pro48Ala) in MUTYH (Adenine DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- gnomAD 1-45329423-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 7.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available