I58V (p.Ile58Val) variant of MMAB (Q96EY8)
I58V (p.Ile58Val) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- TOPMed rs1884631526
- gnomAD rs1884631526
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available