V47L (p.Val47Leu) variant of ABCC4 (O15439)
V47L (p.Val47Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- cosmic curated COSV65312
- ExAC rs746119496
- TOPMed rs746119496
- gnomAD rs746119496
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 18.00
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 7.2e-05)