P42P (p.Pro42Pro) variant of MMACHC (Q9Y4U1)
P42P (p.Pro42Pro) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P42P (p.Pro42Pro) variant details
- p.Pro42Pro
- rs201112314
- gnomAD 1-45507400-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 5.08
- SIFT 0.02
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available