V22I (p.Val22Ile) variant of MMADHC (Q9H3L0)
V22I (p.Val22Ile) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- gnomAD rs1682804912
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.22
- CADD 19.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available