L28P (p.Leu28Pro) variant of SLC22A1 (O15245)
L28P (p.Leu28Pro) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 6-160122018-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.45
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available