H40L (p.His40Leu) variant of MMACHC (Q9Y4U1)
H40L (p.His40Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H40L (p.His40Leu) variant details
- p.His40Leu
- gnomAD 1-45507393-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available