I38V (p.Ile38Val) variant of MMAA (Q8IVH4)
I38V (p.Ile38Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- ESP rs139395700
- ExAC rs139395700
- TOPMed rs139395700
- gnomAD rs139395700
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available