p.Leu60 Leu66del variant of SLC34A3 (Q8N130)
p.Leu60 Leu66del in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu60 Leu66del variant details
- rs749421435
- gnomAD 9-137232575-AGCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 16.10
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Literature evidence available