L25V (p.Leu25Val) variant of SLC22A5 (O76082)
L25V (p.Leu25Val) in SLC22A5 (O76082) 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.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- ExAC rs779174922
- gnomAD rs779174922
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.71
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available