M130I (p.Met130Ile) variant of SLC22A8 (Organic anion transporter 3)
M130I (p.Met130Ile) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
M130I (p.Met130Ile) variant details
- p.Met130Ile
- Ensembl rs2086484199
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.75
- MetaLR 0.67
- MetaSVM 0.53
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available