V68L (p.Val68Leu) variant of ABCC4 (O15439)
V68L (p.Val68Leu) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
V68L (p.Val68Leu) variant details
- p.Val68Leu
- gnomAD rs1251955832
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 2.3e-05)