L70P (p.Leu70Pro) variant of SLC22A1 (O15245)
L70P (p.Leu70Pro) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- gnomAD 6-160122144-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.60
- CADD 22.10
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available