P3A (p.Pro3Ala) variant of MMACHC (Q9Y4U1)
P3A (p.Pro3Ala) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- gnomAD 1-45500339-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.18
- MetaLR 0.60
- MetaSVM -0.30
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available