H40Q (p.His40Gln) variant of MMACHC (Q9Y4U1)
H40Q (p.His40Gln) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H40Q (p.His40Gln) variant details
- p.His40Gln
- gnomAD 1-45507394-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- CADD 6.38
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available