P18R (p.Pro18Arg) variant of MMACHC (Q9Y4U1)
P18R (p.Pro18Arg) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD 1-45500385-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.62
- MetaLR 0.87
- MetaSVM 0.87
- CADD 26.30
- PolyPhen-2 0.73
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available