P3P (p.Pro3Pro) variant of MMACHC (Q9Y4U1)
P3P (p.Pro3Pro) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P3P (p.Pro3Pro) variant details
- p.Pro3Pro
- rs199867236
- gnomAD 1-45500341-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.54
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available