L20P (p.Leu20Pro) variant of SLC22A5 (O76082)
L20P (p.Leu20Pro) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD 5-132370031-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.70
- CADD 24.80
- PolyPhen-2 0.51
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available