P25P (p.Pro25Pro) variant of MMACHC (Q9Y4U1)
P25P (p.Pro25Pro) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- rs749003802
- gnomAD 1-45500407-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available