L50L (p.Leu50Leu) variant of SLC34A3 (Q8N130)
L50L (p.Leu50Leu) in SLC34A3 (Q8N130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs751402893
- gnomAD 9-137232136-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 6.88
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available