V94I (p.Val94Ile) variant of ABCC4 (O15439)
V94I (p.Val94Ile) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
V94I (p.Val94Ile) variant details
- p.Val94Ile
- ExAC rs755002359
- TOPMed rs755002359
- gnomAD rs755002359
- Missense
- Variant Prioritization Score for Impact Estimate 0.0745
- CADD 0.85
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 2.4e-05)