P104L (p.Pro104Leu) variant of SLC22A6 (Q4U2R8)
P104L (p.Pro104Leu) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P104L (p.Pro104Leu) variant details
- p.Pro104Leu
- rs11568627
- UniProt VAR 047878
- 1000Genomes rs11568627
- ESP rs11568627
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.32
- CADD 26.00
- PolyPhen-2 0.68
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available