P42A (p.Pro42Ala) variant of MMACHC (Q9Y4U1)
P42A (p.Pro42Ala) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- gnomAD 1-45507398-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.26
- CADD 4.54
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available