L25R (p.Leu25Arg) variant of SLC22A5 (O76082)
L25R (p.Leu25Arg) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- gnomAD 5-132370046-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available