L27P (p.Leu27Pro) variant of SLC22A1 (O15245)
L27P (p.Leu27Pro) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 6-160122015-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.62
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available