V12I (p.Val12Ile) variant of MMADHC (Q9H3L0)
V12I (p.Val12Ile) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- cosmic curated COSV57574
- gnomAD rs1682805838
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.36
- CADD 20.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available