I12V (p.Ile12Val) variant of MMACHC (Q9Y4U1)
I12V (p.Ile12Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- gnomAD 1-45500366-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.16
- MetaLR 0.61
- MetaSVM -0.24
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available