L76del (p.Leu76del) variant of ABCC2 (Q92887)
L76del (p.Leu76del) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L76del (p.Leu76del) variant details
- rs758343622
- gnomAD 10-99792246-TTTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available