L8V (p.Leu8Val) variant of MMACHC (Q9Y4U1)
L8V (p.Leu8Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 1-45500354-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- MetaLR 0.69
- MetaSVM 0.10
- CADD 19.00
- PolyPhen-2 0.05
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available