L16V (p.Leu16Val) variant of MMACHC (Q9Y4U1)
L16V (p.Leu16Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- gnomAD rs1197773707
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.73
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available