F40L (p.Phe40Leu) variant of SLC22A8 (Organic anion transporter 3)
F40L (p.Phe40Leu) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD rs2086656887
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.65
- MetaLR 0.44
- MetaSVM 0.00
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available